Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6261
Gene name Gene Name - the full gene name approved by the HGNC.	Ryanodine receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RYR1
Synonyms (NCBI Gene) Gene synonyms aliases	CCO, CMYO1A, CMYO1B, CMYP1A, CMYP1B, KDS, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1801086	G>A,C,T	Drug-response, risk-factor, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs28933396	G>A,T	Drug-response, not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs28933397	C>T	Drug-response, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs35180584	C>G,T	Likely-benign, risk-factor, benign-likely-benign, benign	Non coding transcript variant, coding sequence variant, missense variant
rs35189056	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs61739895	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs61739911	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs63749869	G>A	Drug-response, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs111364296	G>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs111364670	G>A,T	Pathogenic	Splice donor variant
rs111436401	G>A	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs111888148	G>A,T	Drug-response, uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs112563513	G>A	Drug-response, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs113379223	G>A,C,T	Likely-pathogenic	Splice acceptor variant
rs113460156	G>A,C	Likely-pathogenic	Splice donor variant
rs113928116	G>C,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs114975624	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs118126378	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs118192113	C>A	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs118192115	G>A	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192116	C>G,T	Drug-response, not-provided, likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, missense variant
rs118192117	T>C	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192118	C>T	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192119	G>A	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192120	G>A	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs118192121	A>C	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192122	G>A	Drug-response, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192123	T>C	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192124	C>T	Drug-response, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192125	G>A	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192126	A>G,T	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192129	C>A	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192130	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs118192131	T>C,G	Not-provided, pathogenic, uncertain-significance	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs118192132	T>A	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192133	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192134	C>T	Not-provided, pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192135	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192136	G>A	Not-provided, pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192138	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192139	A>C,G	Not-provided, pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192140	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192141	A>C	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192142	C>T	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192143	C>G,T	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192144	A>G	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192146	A>G	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192147	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192148	G>A,T	Not-provided, pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192149	G>C	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192150	C>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192151	G>A,C	Pathogenic-likely-pathogenic, not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192153	C>G,T	Conflicting-interpretations-of-pathogenicity, not-provided, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192154	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192155	C>A	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192156	T>C	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192158	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192159	C>G,T	Likely-benign, pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, genic downstream transcript variant, missense variant
rs118192160	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192161	C>T	Drug-response, risk-factor, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192162	A>C,G	Drug-response, risk-factor, pathogenic, not-provided	Coding sequence variant, non coding transcript variant, missense variant
rs118192163	G>A,C,T	Drug-response, risk-factor, pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192165	CGCCAGTTC>-	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs118192166	A>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192167	A>G	Drug-response, risk-factor, pathogenic, not-provided	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192168	G>A	Drug-response, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192169	TTCTACAACAAGAGCGAGGAT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs118192170	T>A,C	Drug-response, pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192171	TT>AC	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192172	C>G,T	Drug-response, pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs118192173	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192174	T>A	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192175	C>T	Drug-response, risk-factor, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192176	G>A	Drug-response, risk-factor, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192177	C>G,T	Drug-response, risk-factor, likely-pathogenic, not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192178	C>G,T	Drug-response, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs118192179	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192180	C>A,T	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192181	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192183	G>A	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192184	A>G	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121918592	G>A,C	Drug-response, risk-factor, pathogenic-likely-pathogenic, not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121918593	G>A	Drug-response, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121918594	G>A,T	Drug-response, risk-factor, pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121918595	C>T	Drug-response, risk-factor, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121918596	GAG>-	Drug-response, risk-factor, pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs137932199	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs137933390	A>G	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs138156449	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs138630815	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs138704724	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, synonymous variant
rs138874610	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs139069946	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs139161723	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs140689610	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs140750876	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs140808099	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, intron variant
rs142558977	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs142929172	G>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs143418190	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs143849895	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant
rs143861818	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, intron variant
rs144157950	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs144164620	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs144336148	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, drug-response, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs144350050	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs145044872	G>A,C,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs145088074	G>A	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs145434723	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs145771708	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs146104858	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs146306934	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs146504767	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs146617004	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs146876145	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs147012990	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs147136339	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs147213895	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs147303895	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs147707463	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs147723844	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs148623597	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Missense variant, non coding transcript variant, coding sequence variant
rs148772854	C>T	Likely-benign, benign-likely-benign, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs149185729	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs149471411	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs150396398	G>A,C,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs150495044	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs192495718	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs192863857	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs193922746	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs193922747	T>C	Drug-response, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs193922748	C>T	Drug-response, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs193922753	G>A,T	Drug-response, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs193922757	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922762	C>A,T	Drug-response, uncertain-significance	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs193922764	C>G,T	Drug-response, not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922766	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs193922768	C>A,G,T	Pathogenic, drug-response, likely-pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs193922770	C>T	Pathogenic, not-provided, drug-response	Missense variant, coding sequence variant, non coding transcript variant
rs193922771	->ATCA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs193922772	G>A,T	Pathogenic, drug-response	Missense variant, coding sequence variant, non coding transcript variant
rs193922778	G>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922781	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922791	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs193922797	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs193922802	G>A	Pathogenic, drug-response	Missense variant, coding sequence variant, non coding transcript variant
rs193922803	C>T	Pathogenic, drug-response	Missense variant, coding sequence variant, non coding transcript variant
rs193922807	G>C	Drug-response, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs193922809	G>A	Drug-response, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs193922816	C>T	Pathogenic, drug-response, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922818	G>A	Pathogenic, drug-response	Missense variant, coding sequence variant, non coding transcript variant
rs193922820	G>A,C	Pathogenic, not-provided	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs193922826	C>G,T	Pathogenic, risk-factor, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs193922832	G>A	Drug-response, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922836	C>T	Pathogenic, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922837	C>G	Pathogenic, likely-pathogenic	Genic downstream transcript variant, intron variant
rs193922839	G>A,C,T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922842	C>G,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant, missense variant
rs193922843	G>T	Drug-response, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922846	GCGGCGGCT>-,GCGGCGGCTGCGGCGGCT	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, inframe insertion, inframe deletion
rs193922854	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs193922856	CAGCAGTGACGCGCGCTGGG>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs193922860	G>A	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922867	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922868	G>A	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922870	A>T	Pathogenic, not-provided	Genic downstream transcript variant, splice acceptor variant
rs193922873	G>A,T	Not-provided, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922874	T>C	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922876	C>T	Drug-response, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922878	C>G	Drug-response, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922879	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922884	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs193922886	A>G	Pathogenic, not-provided	Genic downstream transcript variant, intron variant
rs193922887	C>A,G,T	Pathogenic, not-provided	Genic downstream transcript variant, synonymous variant, coding sequence variant, stop gained
rs193922893	GTCATC>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs193922895	C>A,G,T	Not-provided, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, synonymous variant, coding sequence variant, missense variant
rs193922897	G>C,T	Not-provided, likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs199828145	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs200068725	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs200069592	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200124278	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200355885	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, missense variant
rs200427576	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs200546266	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs200563280	C>G,T	Pathogenic, likely-benign, likely-pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs200777598	G>C	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs200780880	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, non coding transcript variant
rs200893443	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200914778	C>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs200950362	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs200950673	A>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs201686887	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs201834803	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs202160739	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs367543054	T>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs367543055	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs367543056	A>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs367543057	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs367543058	T>G	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs368108496	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs368711923	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs368874586	C>A,G,T	Pathogenic, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, synonymous variant, coding sequence variant, missense variant
rs369206584	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs369466056	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, non coding transcript variant
rs370350821	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs370634440	G>A,T	Likely-benign, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs371027185	T>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs371047178	GGA>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, inframe deletion
rs371455345	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs371566475	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs374115286	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs374924686	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs376687300	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs376790946	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs377178986	C>A	Pathogenic, likely-benign, benign, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs377664510	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, intron variant
rs387906681	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs398123469	CACGGCGGC>-,CACGGCGGCCACGGCGGC,CACGGCGGCCACGGCGGCCACGGCGGC	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, inframe insertion, inframe deletion, coding sequence variant
rs398123470	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs398123472	C>A,T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs536596969	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs537994744	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs539194350	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs551509462	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs559371263	GAG>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Inframe deletion, non coding transcript variant, coding sequence variant
rs565173276	G>A,C,T	Likely-pathogenic	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant
rs566495420	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs567084532	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs567352621	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs587784372	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs587784373	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs587784374	C>-,CC	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs587784375	G>-,GG	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs587784376	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587784379	C>G,T	Uncertain-significance, likely-benign, pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, missense variant
rs727504131	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, missense variant
rs746818096	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs746914281	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs747409654	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs748492214	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs748743312	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs749040743	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs750938678	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs752192756	G>A,C,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant
rs752199191	C>T	Pathogenic	Stop gained, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs754002399	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs754572007	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs755065800	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs755496104	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs755659741	AC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs755875230	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs756138074	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs756593088	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs756850145	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs756870293	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs757481998	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs758580075	TA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs758925580	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs759085500	C>G,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs759317223	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, missense variant
rs760010175	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs761483896	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs763112609	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs763146574	A>G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs763944786	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs764262446	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs765241115	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs766407858	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs767777113	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs767928113	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs768008924	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs768698639	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs768963605	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs770054352	G>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs771741606	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs772494345	G>A,C,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs774119942	A>G	Likely-pathogenic	Splice acceptor variant
rs774319202	TGCAGCGCCCAGTC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs774388278	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs774603798	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs774919231	G>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs776697656	G>A	Likely-pathogenic	Splice donor variant
rs778320565	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs779061307	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs779723153	CT>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794727460	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794727683	CAAAGATGTCAGC>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794727982	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs794727984	G>A,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs794728696	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs797045931	TGGCC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045932	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045933	->TCCTAT	Likely-pathogenic	Inframe insertion, coding sequence variant, non coding transcript variant
rs797045934	G>A,T	Pathogenic	Splice donor variant
rs797045935	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs876661306	GGGCTGGGGCGGCAACGGGGTCGGCGA>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs878854365	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs878854375	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs886039586	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs886041380	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041511	GGGCGGAGACTTTGTG>-	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042171	AGAAATCCAGTTCC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs886042826	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs919322708	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs928989953	->GGGGAGA	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs978984063	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs1003914966	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057517909	T>A	Likely-pathogenic	Splice donor variant
rs1057518773	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1057518885	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057518940	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057518970	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs1057519173	G>A	Likely-pathogenic	Splice donor variant
rs1057520711	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057523844	G>T	Likely-pathogenic	Splice donor variant
rs1057524858	G>A	Likely-pathogenic	Splice donor variant
rs1064793254	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064793717	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1064793932	G>A	Pathogenic, likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1064794572	TTC>-,TTCTTC	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, inframe insertion, genic downstream transcript variant, inframe deletion
rs1064794845	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1085307631	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1085307909	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1131691626	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1131691876	A>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1169938399	G>A,T	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs1171637302	C>A,T	Pathogenic	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs1186905126	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1189024951	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1226228092	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs1234999215	C>T	Likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs1248355799	ACTGCGCG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1249942711	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1263237391	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1278804520	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1281542312	->GCCCGGGCGGCGGAACCCG	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1283302989	G>A,T	Pathogenic-likely-pathogenic	Splice donor variant
rs1317181118	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1332371891	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1346257891	A>G	Likely-pathogenic	Splice acceptor variant
rs1346649518	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1361451153	G>A,T	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
rs1381186128	G>C,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs1419938249	->CA	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1432807966	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1440262870	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1443083095	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant, intron variant
rs1447117024	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1447188345	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1456276440	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1555762532	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555767403	T>G	Pathogenic	Splice donor variant
rs1555769544	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555769818	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555770968	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555772199	CCTG>GCT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555775774	GACCC>-	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555777043	A>G	Likely-pathogenic	Splice acceptor variant
rs1555777086	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555779450	CA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555780327	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555783458	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555784801	T>C	Likely-pathogenic	Splice donor variant
rs1555785090	CT>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555785388	G>C	Likely-pathogenic	Splice acceptor variant
rs1555785771	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555785906	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555786205	CTGGGTAC>AAGCGG	Pathogenic	Intron variant, coding sequence variant, splice donor variant, non coding transcript variant
rs1555786853	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555787058	CT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555788577	T>C	Likely-pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs1555793236	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1555794209	G>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555795308	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555799628	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555800097	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555801843	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555801850	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555801872	->ATGGTGTACTACTTC	Likely-pathogenic	Coding sequence variant, inframe insertion, genic downstream transcript variant
rs1555801874	T>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555801879	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555801902	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555803803	->G	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555803922	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555803933	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555803960	TC>AA	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1555805633	C>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568436081	G>T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568440962	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568443969	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568445415	G>A	Likely-pathogenic	Splice donor variant
rs1568451320	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568452917	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568454672	->CG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568469505	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568476007	->CCTCA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568476203	TT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568480914	G>A	Likely-pathogenic	Splice donor variant
rs1568481364	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568501059	G>A,C	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568501473	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568503046	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568507354	G>A	Likely-pathogenic	Splice acceptor variant
rs1568509739	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568510406	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568514017	G>A	Likely-pathogenic	Splice acceptor variant
rs1568530776	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568549310	GGAGAGACAGGTGCCA>-	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1568562752	->T	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568582893	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568583728	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568583900	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568584027	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568584452	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1568587495	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1568591803	A>C	Uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1568593747	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1568593922	A>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568594068	T>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568604308	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568605049	->GTCTACCTGTACACCGTGGTGGCCTTC	Likely-pathogenic	Coding sequence variant, inframe insertion, genic downstream transcript variant
rs1568605367	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568611775	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568613061	T>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568613113	T>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1568613962	G>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1568614042	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1599625856	->T	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1599641280	->GCTGGAGGCGAATTCTGGGGAGA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1599646668	C>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1599649479	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs1599665128	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1599673988	GCTCCCCTCCCTCAGTGT>-	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1599674179	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1599674197	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1600649879	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600682739	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600683021	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600731073	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600770908	CT>G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600783776	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600787461	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600820232	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600822174	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600832922	TCACCAAG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600842678	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600843056	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600844997	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600892115	G>A	Likely-pathogenic	Coding sequence variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs1600949818	TGATATCATGGCAAAGGTGAGGC>-	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, splice donor variant
rs1600989183	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant

Show/Hide all(5)

miRTarBase ID	miRNA	Experiments
MIRT2096123	hsa-miR-1207-3p	CLIP-seq
MIRT2096124	hsa-miR-4640-5p	CLIP-seq
MIRT2096125	hsa-miR-4726-5p	CLIP-seq
MIRT2096126	hsa-miR-4731-5p	CLIP-seq
MIRT2096127	hsa-miR-637	CLIP-seq

Show/Hide all(73)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001666	Process	Response to hypoxia	IDA	19120137
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IBA
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IDA	10026226, 22480578
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IEA
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IMP	11741831, 16163667, 26115329
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	ISS
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	TAS	19095005
GO:0005245	Function	Voltage-gated calcium channel activity	ISS
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	ISS
GO:0005509	Function	Calcium ion binding	ISS
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	ISS
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS
GO:0005737	Component	Cytoplasm	IDA	11206130
GO:0005790	Component	Smooth endoplasmic reticulum	IBA
GO:0005790	Component	Smooth endoplasmic reticulum	TAS	2298749
GO:0005886	Component	Plasma membrane	IDA	11206130
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	2298749
GO:0005938	Component	Cell cortex	IDA	11206130
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	ISS
GO:0006816	Process	Calcium ion transport	TAS	7511586
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006936	Process	Muscle contraction	ISS
GO:0006936	Process	Muscle contraction	TAS	9030597
GO:0006941	Process	Striated muscle contraction	IBA
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	19095005
GO:0014802	Component	Terminal cisterna	ISS	1374404
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IBA
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS
GO:0015278	Function	Intracellularly gated calcium channel activity	TAS	9030597
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016529	Component	Sarcoplasmic reticulum	ISS
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0030018	Component	Z disc	IBA
GO:0031000	Process	Response to caffeine	IEA
GO:0031000	Process	Response to caffeine	ISS
GO:0031090	Component	Organelle membrane	ISS
GO:0031674	Component	I band	IDA	11206130
GO:0033017	Component	Sarcoplasmic reticulum membrane	IBA
GO:0033017	Component	Sarcoplasmic reticulum membrane	IDA	7556644
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034704	Component	Calcium channel complex	IBA
GO:0042383	Component	Sarcolemma	IBA
GO:0043588	Process	Skin development	ISS
GO:0043931	Process	Ossification involved in bone maturation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048741	Process	Skeletal muscle fiber development	ISS
GO:0048763	Function	Calcium-induced calcium release activity	IMP	26115329
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	10026226
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IMP	11741831, 16163667
GO:0051209	Process	Release of sequestered calcium ion into cytosol	ISS
GO:0051289	Process	Protein homotetramerization	ISS
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0071313	Process	Cellular response to caffeine	IMP	16163667, 26115329
GO:0071313	Process	Cellular response to caffeine	ISS
GO:1990425	Component	Ryanodine receptor complex	ISS

MIM	HGNC	e!Ensembl
180901	10483	ENSG00000196218

Protein

UniProt ID

P21817

Protein name

Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal muscle calcium release channel) (Skeletal muscle ryanodine receptor) (Skeletal muscle-type ryanodine receptor) (Type 1 ryanodine receptor)

Protein function

Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed:11741831

PDB

6UHI , 6UHS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08709	Ins145_P3_rec	8 → 210	Inositol 1,4,5-trisphosphate/ryanodine receptor	Domain
PF02815	MIR	211 → 390	MIR domain	Domain
PF01365	RYDR_ITPR	441 → 636	RIH domain	Family
PF00622	SPRY	660 → 795	SPRY domain	Family
PF02026	RyR	850 → 940	RyR domain	Family
PF02026	RyR	964 → 1054	RyR domain	Family
PF00622	SPRY	1086 → 1206	SPRY domain	Family
PF00622	SPRY	1431 → 1568	SPRY domain	Family
PF01365	RYDR_ITPR	2159 → 2369	RIH domain	Family
PF02026	RyR	2735 → 2825	RyR domain	Family
PF02026	RyR	2855 → 2939	RyR domain	Family
PF08454	RIH_assoc	3874 → 3992	RyR and IP3R Homology associated	Family
PF06459	RR_TM4-6	4382 → 4671	Ryanodine Receptor TM 4-6	Family
PF00520	Ion_trans	4773 → 4949	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Skeletal muscle and brain (cerebellum and hippocampus). {ECO:0000269|PubMed:9607712}.

Sequence

MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRLCFLEPTSNAQNVPPD
LAICCFVLEQSLSVRALQEMLANTVEAGVESSQGGGHRTLLYGHAILLRHAHSRMYLSCL
TTSRSMTDKLAFDVGLQEDATGEACWWTMHPASKQRSEGEKVRVGDDIILVSVSSERYLH
LSTASGELQVDASFMQTLWNMNPICSRCEEGFVTGGHVLRLFHGHMDECLTISPADSDDQ
RRLVYYEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLRVRHVTTGQYLALTEDQGLVV
VDASKAHTKATSFCFRISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHVASGLWLTYAA
PDPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSF
SGKPRGSGPPAGTALPIEGVILSLQDLIIYFEPPSEDLQHEEKQSKLRSLRNRQSLFQEE
GMLSMVLNCIDRLNVYTTAAHFAEFAGEEAAESWKEIVNLLYELLASLIRGNRSNCALFS
TNLDWLVSKLDRLEASSGILEVLYCVLIESPEVLNIIQENHIKSIISLLDKHGRNHKVLD
VLCSLCVCNGVAVRSNQDLITENLLPGRELLLQTNLINYVTSIRPNIFVGRAEGTTQYSK
WYFEVMVDEVTPFLTAQATHLRVGWALTEGYTPYPGAGEGWGGNGVGDDLYSYGFDGLHL
WTGHVARPVTSPGQHLLAPEDVISCCLDLSVPSISFRINGCPVQGVFESFNLDGLFFPVV
SFSAGVKVRFLLGGRHGEFKFLPPPGYAPCHEAVLPRERLHLEPIKEYRREGPRGPHLVG
PSRCLSHTDFVPCPVDTVQIVLPPHLERIREKLAENIHELWALTRIEQGWTYGPVRDDNK
RLHPCLVDFHSLPEPERNYNLQMSGETLKTLLALGCHVGMADEKAEDNLKKTKLPKTYMM
SNGYKPAPLDLSHVRLTPAQTTLVDRLAENGHNVWARDRVGQGWSYSAVQDIPARRNPRL
VPYRLLDEATKRSNRDSLCQAVRTLLGYGYNIEPPDQEPSQVENQSRCDRVRIFRAEKSY
TVQSGRWYFEFEAVTTGEMRVGWARPELRPDVELGADELAYVFNGHRGQRWHLGSEPFGR
PWQPGDVVGCMIDLTENTIIFTLNGEVLMSDSGSETAFREIEIGDGFLPVCSLGPGQVGH
LNLGQDVSSLRFFAICGLQEGFEPFAINMQRPVTTWFSKGLPQFEPVPLEHPHYEVSRVD
GTVDTPPCLRLTHRTWGSQNSLVEMLFLRLSLPVQFHQHFRCTAGATPLAPPGLQPPAED
EARAAEPDPDYENLRRSAGGWSEAENGKEGTAKEGAPGGTPQAGGEAQPARAENEKDATT
EKNKKRGFLFKAKKVAMMTQPPATPTLPRLPHDVVPADNRDDPEIILNTTTYYYSVRVFA
GQEPSCVWAGWVTPDYHQHDMSFDLSKVRVVTVTMGDEQGNVHSSLKCSNCYMVWGGDFV
SPGQQGRISHTDLVIGCLVDLATGLMTFTANGKESNTFFQVEPNTKLFPAVFVLPTHQNV
IQFELGKQKNIMPLSAAMFQSERKNPAPQCPPRLEMQMLMPVSWSRMPNHFLQVETRRAG
ERLGWAVQCQEPLTMMALHIPEENRCMDILELSERLDLQRFHSHTLRLYRAVCALGNNRV
AHALCSHVDQAQLLHALEDAHLPGPLRAGYYDLLISIHLESACRSRRSMLSEYIVPLTPE
TRAITLFPPGRSTENGHPRHGLPGVGVTTSLRPPHHFSPPCFVAALPAAGAAEAPARLSP
AIPLEALRDKALRMLGEAVRDGGQHARDPVGGSVEFQFVPVLKLVSTLLVMGIFGDEDVK
QILKMIEPEVFTEEEEEEDEEEEGEEEDEEEKEEDEEETAQEKEDEEKEEEEAAEGEKEE
GLEEGLLQMKLPESVKLQMCHLLEYFCDQELQHRVESLAAFAERYVDKLQANQRSRYGLL
IKAFSMTAAETARRTREFRSPPQEQINMLLQFKDGTDEEDCPLPEEIRQDLLDFHQDLLA
HCGIQLDGEEEEPEEETTLGSRLMSLLEKVRLVKKKEEKPEEERSAEESKPRSLQELVSH
MVVRWAQEDFVQSPELVRAMFSLLHRQYDGLGELLRALPRAYTISPSSVEDTMSLLECLG
QIRSLLIVQMGPQEENLMIQSIGNIMNNKVFYQHPNLMRALGMHETVMEVMVNVLGGGES
KEIRFPKMVTSCCRFLCYFCRISRQNQRSMFDHLSYLLENSGIGLGMQGSTPLDVAAASV
IDNNELALALQEQDLEKVVSYLAGCGLQSCPMLVAKGYPDIGWNPCGGERYLDFLRFAVF
VNGESVEENANVVVRLLIRKPECFGPALRGEGGSGLLAAIEEAIRISEDPARDGPGIRRD
RRREHFGEEPPEENRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIRAILRSL
VPLEDLVGIISLPLQIPTLGKDGALVQPKMSASFVPDHKASMVLFLDRVYGIENQDFLLH
VLDVGFLPDMRAAASLDTATFSTTEMALALNRYLCLAVLPLITKCAPLFAGTEHRAIMVD
SMLHTVYRLSRGRSLTKAQRDVIEDCLMSLCRYIRPSMLQHLLRRLVFDVPILNEFAKMP
LKLLTNHYERCWKYYCLPTGWANFGVTSEEELHLTRKLFWGIFDSLAHKKYDPELYRMAM
PCLCAIAGALPPDYVDASYSSKAEKKATVDAEGNFDPRPVETLNVIIPEKLDSFINKFAE
YTHEKWAFDKIQNNWSYGENIDEELKTHPMLRPYKTFSEKDKEIYRWPIKESLKAMIAWE
WTIEKAREGEEEKTEKKKTRKISQSAQTYDPREGYNPQPPDLSAVTLSRELQAMAEQLAE
NYHNTWGRKKKQELEAKGGGTHPLLVPYDTLTAKEKARDREKAQELLKFLQMNGYAVTRG
LKDMELDSSSIEKRFAFGFLQQLLRWMDISQEFIAHLEAVVSSGRVEKSPHEQEIKFFAK
ILLPLINQYFTNHCLYFLSTPAKVLGSGGHASNKEKEMITSLFCKLAALVRHRVSLFGTD
APAVVNCLHILARSLDARTVMKSGPEIVKAGLRSFFESASEDIEKMVENLRLGKVSQART
QVKGVGQNLTYTTVALLPVLTTLFQHIAQHQFGDDVILDDVQVSCYRTLCSIYSLGTTKN
TYVEKLRPALGECLARLAAAMPVAFLEPQLNEYNACSVYTTKSPRERAILGLPNSVEEMC
PDIPVLERLMADIGGLAESGARYTEMPHVIEITLPMLCSYLPRWWERGPEAPPSALPAGA
PPPCTAVTSDHLNSLLGNILRIIVNNLGIDEASWMKRLAVFAQPIVSRARPELLQSHFIP
TIGRLRKRAGKVVSEEEQLRLEAKAEAQEGELLVRDEFSVLCRDLYALYPLLIRYVDNNR
AQWLTEPNPSAEELFRMVGEIFIYWSKSHNFKREEQNFVVQNEINNMSFLTADNKSKMAK
AGDIQSGGSDQERTKKKRRGDRYSVQTSLIVATLKKMLPIGLNMCAPTDQDLITLAKTRY
ALKDTDEEVREFLHNNLHLQGKVEGSPSLRWQMALYRGVPGREEDADDPEKIVRRVQEVS
AVLYYLDQTEHPYKSKKAVWHKLLSKQRRRAVVACFRMTPLYNLPTHRACNMFLESYKAA
WILTEDHSFEDRMIDDLSKAGEQEEEEEEVEEKKPDPLHQLVLHFSRTALTEKSKLDEDY
LYMAYADIMAKSCHLEEGGENGEAEEEVEVSFEEKQMEKQRLLYQQARLHTRGAAEMVLQ
MISACKGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEVGFFQSIQALMQTCSV
LDLNAFERQNKAEGLGMVNEDGTVINRQNGEKVMADDEFTQDLFRFLQLLCEGHNNDFQN
YLRTQTGNTTTINIIICTVDYLLRLQESISDFYWYYSGKDVIEEQGKRNFSKAMSVAKQV
FNSLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMMMKLAQDSSQIELLKELLDLQK
DMVVMLLSLLEGNVVNGMIARQMVDMLVESSSNVEMILKFFDMFLKLKDIVGSEAFQDYV
TDPRGLISKKDFQKAMDSQKQFSGPEIQFLLSCSEADENEMINCEEFANRFQEPARDIGF
NVAVLLTNLSEHVPHDPRLHNFLELAESILEYFRPYLGRIEIMGASRRIERIYFEISETN
RAQWEMPQVKESKRQFIFDVVNEGGEAEKMELFVSFCEDTIFEMQIAAQISEPEGEPETD
EDEGAGAAEAGAEGAEEGAAGLEGTAATAAAGATARVVAAAGRALRGLSYRSLRRRVRRL
RRLTAREAATAVAALLWAAVTRAGAAGAGAAAGALGLLWGSLFGGGLVEGAKKVTVTELL
AGMPDPTSDEVHGEQPAGPGGDADGEGASEGAGDAAEGAGDEEEAVHEAGPGGADGAVAV
TDGGPFRPEGAGGLGDMGDTTPAEPPTPEGSPILKRKLGVDGVEEELPPEPEPEPEPELE
PEKADAENGEKEEVPEPTPEPPKKQAPPSPPPKKEEAGGEFWGELEVQRVKFLNYLSRNF
YTLRFLALFLAFAINFILLFYKVSDSPPGEDDMEGSAAGDVSGAGSGGSSGWGLGAGEEA
EGDEDENMVYYFLEESTGYMEPALRCLSLLHTLVAFLCIIGYNCLKVPLVIFKREKELAR
KLEFDGLYITEQPEDDDVKGQWDRLVLNTPSFPSNYWDKFVKRKVLDKHGDIYGRERIAE
LLGMDLATLEITAHNERKPNPPPGLLTWLMSIDVKYQIWKFGVIFTDNSFLYLGWYMVMS
LLGHYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFF
RKFYNKSEDEDEPDMKCDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDIT
FFFFVIVILLAIIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGSDYFDTTPHGFETHT
LEEHNLANYMFFLMYLINKDETEHTGQESYVWKMYQERCWDFFPAGDCFRKQYEDQLS

Sequence length

5038

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway Apelin signaling pathway Circadian entrainment Long-term depression Oxytocin signaling pathway Spinocerebellar ataxia Prion disease Pathways of neurodegeneration - multiple diseases		Stimuli-sensing channels Ion homeostasis

Show/Hide Causal Diseases (10)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
arthrogryposis multiplex congenita	Arthrogryposis multiplex congenita	rs758247804	N/A
Centronuclear Myopathy	centronuclear myopathy	rs756870293, rs756847750, rs1568454672, rs1600843056, rs1332371891, rs776252106	N/A
Congenital Multicore Myopathy With External Ophthalmoplegia	congenital multicore myopathy with external ophthalmoplegia	rs1568501473, rs367543058, rs756870293, rs1165213387, rs1568583728, rs118192164, rs1970064722, rs193922886, rs193922870, rs193922771, rs1568476203, rs876661306, rs1600649879, rs752199191, rs797045932, rs1968540857 View all (1 more)	N/A
congenital myopathy with fiber type disproportion	Congenital myopathy with fiber type disproportion	rs118192117, rs118192178, rs1057518940, rs143849895, rs193922810, rs367543055, rs1475149579, rs367543058	N/A
distal arthrogryposis	Distal arthrogryposis	rs1555769818	N/A
King Denborough Syndrome	king denborough syndrome	rs118192177, rs118192178, rs111888148, rs193922746, rs193922837	N/A
multiminicore myopathy	Multiminicore myopathy	rs376526576	N/A
Myopathy	Central core myopathy, myopathy	rs118192178, rs118192146, rs797045934, rs118192133, rs118192165, rs193922867, rs797045935, rs118192156, rs1568614042, rs193922884, rs118192117, rs193922887, rs118192149, rs118192169, rs978984063 View all (35 more)	N/A
Myopathy With External Ophthalmoplegia	Myopathy, RYR1-associated	rs1555787058	N/A
Autism Spectrum Disorder	autism spectrum disorder due to auts2 deficiency	rs1801086	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
congenital myopathy	Congenital myopathy	N/A	N/A	ClinVar
Diabetes	Triglyceride levels in non-type 2 diabetes	N/A	N/A	GWAS
hypotonia	Hypotonia	N/A	N/A	ClinVar
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar
Lynch syndrome	Lynch syndrome 5	N/A	N/A	ClinVar
Myasthenic Syndrome	Congenital myasthenic syndrome 12, Congenital myasthenic syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (98)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	36131268
Alzheimer Disease	Associate	32033164
Amyotrophic Lateral Sclerosis	Associate	35355568
Anemia Diamond Blackfan	Associate	9321770
Arrhythmias Cardiac	Stimulate	29970108
Arrhythmias Cardiac	Associate	34528764
Arthrogryposis	Associate	26932181
Atrial Fibrillation	Associate	10400019
Breast Neoplasms	Associate	28971320
Cleft Palate	Associate	23553484
Colorectal Neoplasms	Associate	36341526
Compartment Syndromes	Associate	37919205
congenital fibrosis of the extraocular muscles	Associate	24091937
Contracture	Associate	29178655
Crisponi syndrome	Associate	34535181
Dementia Multi Infarct	Associate	17483490
Disease	Associate	30715496
Distal Myopathies	Associate	19797833, 29178655
Edema	Associate	26932181
Encephalopathy Spastic Tetraparesis and Hypogonadism	Associate	28269792
Essential Tremor	Associate	37335342
Fasciculation	Associate	27558158, 31165076, 31680123
Fatigue	Associate	29970108, 35698232
Fetal akinesia syndrome X linked	Associate	24961629, 25476234, 26932181, 32779773
Fibrosis of Extraocular Muscles Congenital 3B	Associate	24091937
Genetic Diseases Inborn	Associate	30027098, 30842289, 31680123, 34166122, 36833224, 40429823, 9497245
Heart Defects Congenital	Associate	34528764
Heat Stress Disorders	Associate	25658027, 26565425, 39457051
Hip Dislocation Congenital	Associate	14670767
Hydrops Fetalis	Associate	33686258
Hypospadias	Associate	30027098
Hypothermia	Associate	35414440
Infant Newborn Diseases	Associate	26932181
Inflammation	Associate	15299003
Intracranial Hemorrhages	Associate	34528764
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies	Associate	37154182
Joint Instability	Associate	28269792
Lymphangioma Cystic	Associate	26932181
Malignant Hyperthermia	Associate	10051009, 14570802, 14670767, 15299003, 16372898, 17483490, 20142353, 21062345, 21088110, 21795085, 23919265, 24091937, 25658027, 26115329, 26565425 View all (27 more)
Malignant hyperthermia susceptibility type 1	Associate	10051009, 23919265, 33458582, 8430700, 9138151
Melanoma	Associate	31647501
Microcystic adnexal carcinoma	Stimulate	35509066
Minicore Myopathy with External Ophthalmoplegia	Associate	12192640, 16372898, 19797833, 20080402, 30715496, 30932294, 32272370, 35361824, 35428369, 36292611, 38582058
Mitochondrial Diseases	Associate	20443062
Mobility Limitation	Associate	35428369
Motor Disorders	Associate	30155738, 34884796
Movement Disorders	Associate	38201236
Multiple pterygium syndrome	Associate	25476234, 26932181
Muscle Cramp	Associate	29298851
Muscle Hypotonia	Associate	14670767, 27353517, 34528764, 34535181, 34970863, 35698232
Muscle Neoplasms	Associate	35666680
Muscle Rigidity	Associate	37643885
Muscle Weakness	Associate	17483490, 20839240, 24091937, 28269792, 29178655, 29298851, 29970108, 30715496, 35627144, 35741838, 38201236
Muscular Diseases	Associate	16940308, 20080402, 20839240, 21795085, 23553484, 23805838, 23894444, 23919265, 24091937, 25214167, 28269792, 29298851, 29970108, 30325262, 30611313 View all (19 more)
Muscular Dystrophies	Associate	30715496
Muscular Dystrophy Duchenne	Associate	34884796
Musculoskeletal Abnormalities	Associate	28779239
Musculoskeletal Diseases	Associate	33686258
Myalgia	Associate	29298851, 35698232
Myasthenic Syndromes Congenital	Associate	32403337
Myopathies Structural Congenital	Associate	20839240, 21482111, 27558158, 28269792, 33170376, 34463354, 34535181, 35361824, 35666680, 37364426
Myopathy Central Core	Associate	14570802, 14670767, 15175001, 15299003, 16372898, 17483490, 20142353, 20443062, 21088110, 21282829, 23183335, 23805838, 23919265, 24828896, 25084811 View all (16 more)
Myostatin related muscle hypertrophy	Associate	37154182
Myotonia Congenita	Associate	14670767, 17483490, 20839240, 21062345, 22028225, 23826317, 23919265, 25428687, 26932181, 28269792, 30715496, 30932294, 34528764, 34535181, 35081925 View all (7 more)
Neoplasms	Associate	28971320, 33232371, 36167878
Neoplastic Syndromes Hereditary	Associate	36292611
Neurodegenerative Diseases	Associate	35355568
Neurologic Manifestations	Associate	30155738
Neuromuscular Diseases	Associate	22526018, 26578207, 31903994, 32403337, 37154182
Niemann Pick Disease Type C	Associate	22505584
Obesity	Associate	25520250
Ophthalmoplegia	Associate	17483490, 20839240, 21062345, 24091937, 30155738, 35698232
Osteitis Deformans	Associate	35355568
Osteoporosis	Stimulate	37874452
Pancreatic Neoplasms	Associate	36740149
Paralyses Familial Periodic	Associate	20080402, 29298851
Paralysis	Associate	20080402
Pena Shokeir syndrome type 1	Associate	25476234
Pneumonia of Calves Enzootic	Associate	30842289
Pre Eclampsia	Inhibit	20178461
Primary Release Disorder Of Platelets	Associate	36318155
Pterygium	Associate	26932181
Ptosis Hereditary Congenital 2	Associate	21062345
Pyruvate Carboxylase Deficiency Disease	Associate	37335342
Renal Insufficiency Chronic	Associate	40429823
Respiratory Insufficiency	Associate	25428687, 34528764, 35698232, 37364426
Respiratory Paralysis	Associate	29298851
Rhabdomyolysis	Associate	26565425, 32978841
Rigid spine syndrome	Associate	23553484
Scoliosis	Associate	14670767, 37643885
Sick Sinus Syndrome 1 Autosomal Recessive	Inhibit	10400019
Spasms Infantile	Associate	29667327
Stiff Skin Syndrome	Associate	29178655
Stomach Neoplasms	Associate	27708434
Tetralogy of Fallot	Associate	30582441
Transposition of Great Vessels	Associate	34528764
Tremor	Associate	37335342
Visceral myopathy familial external ophthalmoplegia	Stimulate	29970108

RYR1 (ryanodine receptor 1)