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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	773
Gene name	Calcium voltage-gated channel subunit alpha1 A
Gene symbol	CACNA1A
Synonyms (NCBI Gene)	APCABICACNL1A4CAV2.1DEE42EA2EIEE42FHMHPCAMHPMHP1SCA6
Chromosome	19
Chromosome location	19p13.13
Summary	Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium c

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SNP ID	Visualize variation	Clinical significance	Consequence
rs16024	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs16054	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC>-,TGC,TGCTGC,TGCTGCTGC,TGCTGCTGCTGC,TGCTGCTGCTGCTGC,TGCTGCTGCTGCTGCTGC,TGCTGCTGCTGCTGCTGCTGC,TGCTGCTGCTGCTGCTGCTGCTGC,TGCTGCTGCTGCTGCTGCTGCTGCTGC,TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,TGCTGCT	Likely-benign, benign, pathogenic	Inframe deletion, 3 prime UTR variant, inframe insertion, coding sequence variant
rs2304094	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs17846921	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs111366222	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs121908211	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908212	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908213	A>G	Pathogenic	Coding sequence variant, missense variant
rs121908214	T>G	Pathogenic	Coding sequence variant, missense variant
rs121908215	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908216	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs121908217	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908218	G>A,C,T	Not-provided, pathogenic	Coding sequence variant, missense variant, synonymous variant
rs121908219	T>C	Pathogenic	Coding sequence variant, missense variant
rs121908220	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121908225	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121908226	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908227	A>C	Pathogenic	Coding sequence variant, missense variant
rs121908228	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs121908230	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908233	A>G	Pathogenic	Coding sequence variant, missense variant
rs121908236	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908237	C>A	Pathogenic	Coding sequence variant, missense variant
rs121908242	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs121908243	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908247	C>T	Pathogenic-likely-pathogenic, likely-pathogenic, not-provided, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121909323	G>A	Pathogenic	Coding sequence variant, stop gained
rs121909324	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs121909326	A>G	Pathogenic	Coding sequence variant, missense variant
rs184723350	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant
rs188863534	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs190551509	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs199745070	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs199886234	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs201200430	G>A	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201236364	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201350764	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201836062	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202216404	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs267606696	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant, stop gained
rs369033909	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs370541345	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371972266	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372240227	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373192655	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs374307014	C>A,T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs374686479	G>A,C	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs374749004	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant
rs375354077	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs375628894	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376684786	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs551380805	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs554393704	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs561858384	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs574805525	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587776692	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776693	C>T	Pathogenic	Splice donor variant
rs587776694	->C	Pathogenic	Frameshift variant, coding sequence variant
rs587776695	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs746790849	G>-,GG	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs746848153	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs749587119	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs751675055	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs754935637	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs757291476	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs757953057	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs758409135	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs760682283	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs760994682	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs763941704	GGTCCCGCTCCT>-,GGTCCCGCTCCTGGTCCCGCTCCT	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion, inframe deletion
rs764399373	CTCGCCCTCGCC>-,CTCGCC,CTCGCCCTCGCCCTCGCC,CTCGCCCTCGCCCTCGCCCTCGCC	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, inframe insertion, inframe deletion
rs764839814	G>A,C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs767432719	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs768950814	->GTG,GTGGTG,GTGGTGGTG	Benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion
rs774224202	G>A,C	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs779221807	G>A	Pathogenic	Coding sequence variant, stop gained
rs780515850	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, synonymous variant, coding sequence variant
rs786200962	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs786200963	C>T	Likely-pathogenic, uncertain-significance	Intron variant
rs794727355	C>T	Pathogenic	Splice donor variant
rs794727411	C>G,T	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs863224852	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs886037944	C>G	Pathogenic	Missense variant, coding sequence variant
rs886037946	C>A	Pathogenic	Missense variant, coding sequence variant
rs886039668	G>A	Pathogenic	Coding sequence variant, stop gained
rs886041279	AAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs886041541	A>C	Pathogenic	Missense variant, coding sequence variant
rs886041654	C>A	Pathogenic	Missense variant, coding sequence variant
rs886041909	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs886042230	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs886043657	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886044439	T>C,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs906086634	T>C	Likely-pathogenic	Splice acceptor variant
rs940460024	G>A,T	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs951196653	C>A	Likely-pathogenic	Splice donor variant
rs1057518069	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057518116	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518513	C>T	Likely-pathogenic	Splice donor variant
rs1057518532	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1057518779	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1057519197	A>G	Likely-pathogenic	Splice donor variant
rs1057519429	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057520154	->ACTGGTCCGCTGCTCCCACACGGACTTG	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1057520749	A>T	Pathogenic	Coding sequence variant, missense variant
rs1057520918	C>T	Pathogenic	Coding sequence variant, missense variant
rs1057521920	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1057522420	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1057524483	T>C	Likely-pathogenic	Splice acceptor variant
rs1064794261	G>A	Pathogenic	Coding sequence variant, missense variant
rs1064794262	CT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1064794263	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794629	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794808	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1064794858	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795751	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795800	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795856	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1064796199	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796640	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1064796709	T>G	Likely-pathogenic	Splice acceptor variant
rs1131691374	AAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1131691712	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1158454977	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1272886269	C>T	Pathogenic	Splice donor variant
rs1315533129	C>A,T	Pathogenic	Splice donor variant
rs1318353774	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1355062450	G>A	Pathogenic	Stop gained, coding sequence variant
rs1420078244	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1555730801	->A	Pathogenic	Coding sequence variant, stop gained
rs1555730878	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555730902	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555736262	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1555736565	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555737113	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555738200	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555738369	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555740805	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1555743942	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555745158	G>C	Likely-pathogenic	Intron variant
rs1555745461	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1555745467	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555752975	GGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555753042	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555755878	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1555755909	GCTCCGCCTTGTCCTCCGGACCCTCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555755926	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555755929	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1555755977	CCCGTGCGCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555756091	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555756130	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1555756161	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555756461	CAC>GT	Pathogenic	Frameshift variant, coding sequence variant
rs1555756737	C>A	Pathogenic	Coding sequence variant, stop gained
rs1555757432	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555757523	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555757537	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555758842	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555759066	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555761603	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555762855	AACAATAGCAACACACAGCGTG>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1555762869	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555762908	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555767914	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555767930	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1555773764	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1555797179	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1568440440	GT>-	Pathogenic	Intron variant, coding sequence variant, stop gained, inframe indel
rs1568443280	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1568447650	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1568457080	C>A	Pathogenic	Splice donor variant
rs1568470104	G>A	Pathogenic	Coding sequence variant, stop gained
rs1568473171	G>A	Pathogenic	Coding sequence variant, stop gained
rs1568473233	G>A	Pathogenic	Coding sequence variant, stop gained
rs1568485109	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1568493323	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1568494824	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1568495944	G>A	Pathogenic	Coding sequence variant, stop gained
rs1568507151	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1568514116	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1568514371	AG>CTCC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568518113	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568518139	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1568523843	->T	Pathogenic	Coding sequence variant, stop gained
rs1568528144	C>T	Pathogenic	Coding sequence variant, stop gained
rs1568528298	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1568546593	G>C,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1568569290	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1568659847	C>T	Pathogenic	Coding sequence variant, missense variant
rs1568720031	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599276830	TCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599289383	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599292631	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1600088360	C>T	Likely-pathogenic	Splice donor variant
rs1600114562	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1600127096	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1600130724	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1600139005	A>C	Pathogenic	Stop gained, coding sequence variant
rs1600139781	G>A	Pathogenic	Stop gained, coding sequence variant
rs1600152215	C>A	Pathogenic	Intron variant, splice donor variant
rs1600180395	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1600180457	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1600180659	T>C	Likely-pathogenic	Splice acceptor variant
rs1600198481	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1600242882	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1600271575	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1600272344	->CCCCCCTGCCG	Pathogenic	Frameshift variant, coding sequence variant
rs1600273534	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1600274038	C>T	Pathogenic	Stop gained, coding sequence variant
rs1600293149	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1600313212	A>-	Likely-pathogenic	Splice donor variant
rs1600353301	->GG	Pathogenic	Frameshift variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT659929	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT659928	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT659927	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT659926	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT659925	hsa-miR-5695	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT659924	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT659923	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT608764	hsa-miR-4485-5p	HITS-CLIP	24906430
MIRT608763	hsa-miR-370-3p	HITS-CLIP	24906430
MIRT608762	hsa-miR-6893-3p	HITS-CLIP	24906430
MIRT608761	hsa-miR-4734	HITS-CLIP	24906430
MIRT608760	hsa-miR-4706	HITS-CLIP	24906430
MIRT608759	hsa-miR-4749-5p	HITS-CLIP	24906430
MIRT608758	hsa-miR-744-5p	HITS-CLIP	24906430
MIRT608764	hsa-miR-4485-5p	HITS-CLIP	24906430
MIRT608763	hsa-miR-370-3p	HITS-CLIP	24906430
MIRT608762	hsa-miR-6893-3p	HITS-CLIP	24906430
MIRT608761	hsa-miR-4734	HITS-CLIP	24906430
MIRT608760	hsa-miR-4706	HITS-CLIP	24906430
MIRT608759	hsa-miR-4749-5p	HITS-CLIP	24906430
MIRT608758	hsa-miR-744-5p	HITS-CLIP	24906430
MIRT572335	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT572334	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT572333	hsa-miR-4307	PAR-CLIP	20371350
MIRT572332	hsa-miR-335-3p	PAR-CLIP	20371350
MIRT738160	hsa-miR-626	HITS-CLIP	33718276
MIRT738161	hsa-miR-1226	HITS-CLIP	33718276
MIRT659929	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT659928	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT659927	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT659926	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT659925	hsa-miR-5695	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT659924	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT659923	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616320	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT616319	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT616318	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT572332	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT572335	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT572334	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT572333	hsa-miR-4307	PAR-CLIP	20371350
MIRT572332	hsa-miR-335-3p	PAR-CLIP	20371350
MIRT857393	hsa-miR-1273g	CLIP-seq
MIRT857394	hsa-miR-147	CLIP-seq
MIRT857395	hsa-miR-644	CLIP-seq
MIRT857396	hsa-miR-1273f	CLIP-seq
MIRT857397	hsa-miR-143	CLIP-seq
MIRT857398	hsa-miR-146a	CLIP-seq
MIRT857399	hsa-miR-146b-5p	CLIP-seq
MIRT857394	hsa-miR-147	CLIP-seq
MIRT857400	hsa-miR-3148	CLIP-seq
MIRT857401	hsa-miR-3682-3p	CLIP-seq
MIRT857402	hsa-miR-4251	CLIP-seq
MIRT857403	hsa-miR-4329	CLIP-seq
MIRT857404	hsa-miR-4461	CLIP-seq
MIRT857405	hsa-miR-4496	CLIP-seq
MIRT857406	hsa-miR-4708-5p	CLIP-seq
MIRT857407	hsa-miR-4711-3p	CLIP-seq
MIRT857408	hsa-miR-4770	CLIP-seq
MIRT857409	hsa-miR-541	CLIP-seq
MIRT857410	hsa-miR-548a-3p	CLIP-seq
MIRT857411	hsa-miR-548e	CLIP-seq
MIRT857412	hsa-miR-548f	CLIP-seq
MIRT857413	hsa-miR-581	CLIP-seq
MIRT857414	hsa-miR-589	CLIP-seq
MIRT857415	hsa-miR-624	CLIP-seq
MIRT857416	hsa-miR-629	CLIP-seq
MIRT857417	hsa-miR-654-5p	CLIP-seq
MIRT2192263	hsa-miR-4447	CLIP-seq
MIRT2192264	hsa-miR-4472	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IC	23376566
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	10753886, 12451115
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IGI	21883149
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	8692999, 11865310, 21078624, 33539324
GO:0005634	Component	Nucleus	IDA	16595610
GO:0005737	Component	Cytoplasm	IDA	16595610
GO:0005886	Component	Plasma membrane	IDA	16595610, 26716990
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	10753886
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0008331	Function	High voltage-gated calcium channel activity	IDA	21883149, 24836863, 26716990
GO:0008331	Function	High voltage-gated calcium channel activity	IMP	23376566
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10753886
GO:0016020	Component	Membrane	TAS	16595610
GO:0019905	Function	Syntaxin binding	IDA	8692999
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042995	Component	Cell projection	IDA	16595610
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	ISS
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IDA	23376566
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IDA	24836863, 26716990
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:1904645	Process	Response to amyloid-beta	IDA	18216187, 23376566
GO:1904646	Process	Cellular response to amyloid-beta	IDA	21883149
GO:1904646	Process	Cellular response to amyloid-beta	IGI	21883149

MIM	HGNC	e!Ensembl
601011	1388	ENSG00000141837

O00555

Protein name

Voltage-dependent P/Q-type calcium channel subunit alpha-1A (Brain calcium channel I) (BI) (Calcium channel, L type, alpha-1 polypeptide isoform 4) (Voltage-gated calcium channel subunit alpha Cav2.1)

Protein function

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expressio

PDB

3BXK , 8X90 , 8X91 , 8X93

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	97 → 371	Ion transport protein	Family
PF00520	Ion_trans	485 → 724	Ion transport protein	Family
PF00520	Ion_trans	1242 → 1520	Ion transport protein	Family
PF00520	Ion_trans	1564 → 1821	Ion transport protein	Family
PF16905	GPHH	1830 → 1883	Voltage-dependent L-type calcium channel, IQ-associated	Family
PF08763	Ca_chan_IQ	1893 → 1970	Voltage gated calcium channel IQ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain specific; mainly found in cerebellum, cerebral cortex, thalamus and hypothalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in heart, kidney, liver or muscle. Purkinje cells contain predominantly P

Sequence

MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMA
LYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQH
LPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTG
ILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIF
AIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQ
FDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLS
GEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDAL
RRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIR
RMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGL
GTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLR
NLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTV
FQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQ
ELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSE
MRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRA
AEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRE
SDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRA
HRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARRE
DKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAA
PHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTP
ENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEE
KKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIAL
AAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVV
SGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNIL
IVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEF
HYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFF
FVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQ
FVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFG
ILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRIL
LWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRT
FFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFL
MLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSP
PLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDA
ELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQ
DRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQ
KTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAEN
QRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSH
RASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHP
PPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPR
RGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQQQAVARPGRAATSGPRR
YPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEG
PPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGP
ACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC

Sequence length

2506

Interactions

View interactions

	KEGG		Reactome
	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle Retrograde endocannabinoid signaling Glutamatergic synapse Cholinergic synapse Serotonergic synapse GABAergic synapse Dopaminergic synapse Long-term depression Taste transduction Type II diabetes mellitus Spinocerebellar ataxia Morphine addiction Nicotine addiction Chemical carcinogenesis - receptor activation		Presynaptic depolarization and calcium channel opening Regulation of insulin secretion

6414

Show/Hide Causal Diseases (43)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs886037945	RCV001814128
Ataxia _ Neurologic (child onset)	Likely pathogenic; Pathogenic	rs121908247	RCV000755049
Auditory neuropathy	Pathogenic	rs2513710454	RCV003484472
Bulbar palsy	Likely pathogenic; Pathogenic	rs1064794262	RCV001004002
CACNA1A-associated disorder	Likely pathogenic; Pathogenic	rs2144773045	RCV003314034
CACNA1A-associated disorders	Likely pathogenic; Pathogenic	rs1555745461	RCV001252961
CACNA1A-related complex neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2145030587, rs121909323, rs765531651, rs1555751762, rs1555773764, rs886042230	RCV004785433 RCV004786248 RCV004595370 RCV006249664 RCV005638113 RCV004789205
CACNA1A-related disorder	Likely pathogenic; Pathogenic	rs2060983144, rs771682941, rs2144524434, rs794727355, rs794727411, rs121908212, rs2145245078, rs2512544978, rs2513512123, rs2512918165, rs1353710115, rs1057519429, rs1064794262, rs746790849, rs1555740805 View all (5 more)	RCV004734160 RCV002291304 RCV004729060 RCV003233483 RCV005868021 RCV005867734 RCV003985608 RCV003985594 RCV003985602 RCV003985618 RCV003985676 RCV004725207 RCV003985358 RCV003985368 RCV003985374 RCV003985376 RCV003985429 RCV004554843 RCV003985479 RCV005232218 RCV001249308
Cerebellar ataxia	Likely pathogenic; Pathogenic	rs1057519429, rs1568440440	RCV000416438 RCV000678985
Cerebellar atrophy	Likely pathogenic	rs1057519429	RCV000556499
Cerebral palsy	Likely pathogenic	rs1008881855	RCV001796577
Chronic and progressive ataxia	Likely pathogenic; Pathogenic	rs121908247	RCV000157057
Delayed gross motor development	Likely pathogenic; Pathogenic	rs1555745461	RCV001787103
Developmental and epileptic encephalopathy, 42	Likely pathogenic; Pathogenic	rs2055612479, rs2059069286, rs577006493, rs2144536202, rs2144725957, rs2144559526, rs2060983144, rs2144506286, rs2144506487, rs1431092862, rs2144726142, rs2144748340, rs2144772838, rs2144880750, rs2144952476 View all (229 more)	RCV001319286 RCV005213525 RCV001359986 RCV001378180 RCV001377850 RCV001379527 RCV001377033 RCV001384990 RCV001388667 RCV001390936 RCV001388845 RCV001380077 RCV001387640 RCV001382433 RCV001389685 RCV001388196 RCV001882616 RCV001882838 RCV002034491 RCV001775442 RCV001869624 RCV001843393 RCV001897364 RCV001990214 RCV001993034 RCV001991990 RCV001979015 RCV002034426 RCV001964248 RCV001908243 RCV001911720 RCV002008523 RCV001916764 RCV001889863 RCV001891301 RCV001988634 RCV001972240 RCV001912838 RCV001942154 RCV002037295 RCV001900649 RCV001875089 RCV001936104 RCV001885672 RCV001956124 RCV002000901 RCV002023157 RCV002048449 RCV001935935 RCV001958765 RCV002012394 RCV002038382 RCV002052088 RCV002052295 RCV003774680 RCV003089220 RCV003774696 RCV002273848 RCV002274467 RCV002284612 RCV003097686 RCV002288322 RCV002289240 RCV002291184 RCV002468895 RCV002472158 RCV001852172 RCV001061471 RCV002760506 RCV002801531 RCV002832888 RCV002856756 RCV002847257 RCV002858102 RCV002853067 RCV002866279 RCV002867812 RCV002894624 RCV002889983 RCV002904136 RCV002959232 RCV001248022 RCV002995481 RCV003031100 RCV003005665 RCV003024917 RCV003046859 RCV003066191 RCV002512926 RCV000802118 RCV001390440 RCV001381850 RCV001388786 RCV005861017 RCV001390632 RCV001380080 RCV001851752 RCV000763032 RCV005222675 RCV001049766 RCV004795386 RCV002810048 RCV003130898 RCV000240952 RCV000240888 RCV000240915 RCV003226703 RCV003779827 RCV001383649 RCV001859533 RCV003233020 RCV003233021 RCV003314370 RCV003484521 RCV003592048 RCV003785421 RCV003785466 RCV003785554 RCV003783732 RCV003783733 RCV003783734 RCV003779401 RCV003782643 RCV003787414 RCV003788343 RCV003796376 RCV003794619 RCV003807838 RCV003806179 RCV003799471 RCV003804173 RCV003804222 RCV003802935 RCV003801120 RCV003800363 RCV003800368 RCV003800757 RCV003801965 RCV003815743 RCV003809475 RCV003809540 RCV003815324 RCV003813436 RCV003802489 RCV003802561 RCV003805033 RCV003805034 RCV003805243 RCV003812316 RCV003810154 RCV003989467 RCV004594838 RCV002523927 RCV001850999 RCV000787277 RCV001377005 RCV000853325 RCV001264726 RCV005603630 RCV005409657 RCV003152605 RCV003766687 RCV001865490 RCV001059907 RCV002526562 RCV001253541 RCV000526917 RCV002271522 RCV005603634 RCV001853632 RCV000547039 RCV000544536 RCV000552285 RCV000547249 RCV000526339 RCV000528779 RCV000550890 RCV000578415 RCV003767418 RCV003458467 RCV005213366 RCV002529808 RCV000653343 RCV000653332 RCV000653333 RCV000653321 RCV001035721 RCV001382612 RCV000703765 RCV000686079 RCV000687889 RCV000703804 RCV000707561 RCV000706124 RCV000685695 RCV000694800 RCV003492153 RCV000815552 RCV001264752 RCV001390633 RCV005870842 RCV003141770 RCV001869248 RCV000811974 RCV000799538 RCV000817571 RCV000817011 RCV000798464 RCV000806243 RCV000796048 RCV000814263 RCV000802717 RCV000817590 RCV000805379 RCV000806796 RCV003224808 RCV001368840 RCV002513778 RCV000653331 RCV005222736 RCV002514302 RCV001215900 RCV003769308 RCV003769356 RCV002549952 RCV001050623 RCV001004739 RCV003769415 RCV001063625 RCV001066880 RCV001039877 RCV001069607 RCV001041874 RCV001052581 RCV001038879 RCV001036072 RCV001175164 RCV001217912 RCV001223292 RCV001226545 RCV001247687 RCV001244748 RCV001226222 RCV001234689 RCV001251167 RCV001253610 RCV001254122 RCV001880119 RCV004769987 RCV001380079 RCV001871718 RCV001292596 RCV001308810 RCV001301264
Developmental and epileptic encephalopathy, 52	Pathogenic; Likely pathogenic	rs2144629622, rs2144958410, rs1296629000, rs2145245595, rs886037946, rs2144773045, rs2144622461, rs2144833336, rs2144979269, rs2144980363, rs2144980726, rs2145004155, rs2144523407, rs2144647872, rs2144649756 View all (15 more)	RCV002227282 RCV002227289 RCV002227288 RCV002227286 RCV002227402 RCV002227403 RCV002227404 RCV002227405 RCV002227406 RCV002227407 RCV002227408 RCV002227409 RCV002227410 RCV002227411 RCV002227412 RCV002227083 RCV002227018 RCV002227102 RCV002227158 RCV002227161 RCV002227166 RCV002227168 RCV002227167 RCV002227176 RCV002227178 RCV002227194 RCV002227217 RCV002227240 RCV002227258 RCV002227260
Disorder of sexual differentiation	Pathogenic	rs2059190992	RCV001568320
Early Infantile Epileptic Encephalopathy, Autosomal Dominant	Pathogenic	rs1555755909	RCV002464259
Enlarged cisterna magna	Likely pathogenic; Pathogenic	rs121908247	RCV000415457
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs1064794262, rs1555773764	RCV001004002 RCV000656726
Episodic ataxia type 2	Likely pathogenic; Pathogenic	rs2055612479, rs1568507151, rs2059069286, rs2057736834, rs577006493, rs2145051267, rs2144536202, rs2144725957, rs2144559526, rs2060983144, rs2144506286, rs2144506487, rs1431092862, rs2144726142, rs2144748340 View all (247 more)	RCV001319286 RCV001328544 RCV005213525 RCV001336208 RCV001359986 RCV001376055 RCV001378180 RCV001377850 RCV001379527 RCV001377033 RCV001384990 RCV001388667 RCV001390936 RCV001388845 RCV001380077 RCV001387640 RCV001382433 RCV001389685 RCV001388196 RCV001882616 RCV002246439 RCV001882838 RCV002034491 RCV001869624 RCV002227282 RCV001897364 RCV001990214 RCV001993034 RCV001991990 RCV002227289 RCV002034426 RCV001964248 RCV001908243 RCV001911720 RCV002008523 RCV001916764 RCV001889863 RCV001891301 RCV001988634 RCV001972240 RCV001912838 RCV001942154 RCV002037295 RCV001900649 RCV001875089 RCV001936104 RCV001885672 RCV001956124 RCV002000901 RCV002023157 RCV002048449 RCV001935935 RCV001958765 RCV002012394 RCV002038382 RCV003773527 RCV002227402 RCV002227403 RCV002227404 RCV002227405 RCV002227406 RCV002227407 RCV002227408 RCV002227409 RCV002227410 RCV002227411 RCV002227412 RCV003774696 RCV002282720 RCV003097686 RCV000169640 RCV001852172 RCV000662177 RCV002760506 RCV002801531 RCV002832888 RCV002856756 RCV002847257 RCV002858102 RCV002853067 RCV002866279 RCV002867812 RCV002894624 RCV002889983 RCV002904136 RCV002959232 RCV000197857 RCV002995481 RCV003031100 RCV003005665 RCV003024917 RCV003046859 RCV003066191 RCV002512926 RCV000504541 RCV001390440 RCV000009013 RCV000009014 RCV000009017 RCV000009019 RCV000009021 RCV000009023 RCV000009024 RCV000009025 RCV000502832 RCV001380080 RCV000009031 RCV000009032 RCV000009033 RCV005222675 RCV000157056 RCV000009037 RCV004795386 RCV000763034 RCV003224954 RCV003228702 RCV001383649 RCV001859533 RCV003779849 RCV003233022 RCV003330231 RCV003333361 RCV003335812 RCV003336686 RCV003336697 RCV003448529 RCV003785421 RCV003785466 RCV003785554 RCV003783732 RCV003783733 RCV003783734 RCV003779401 RCV003782643 RCV003787414 RCV003788343 RCV003796376 RCV003794619 RCV003807838 RCV003806179 RCV003799471 RCV003804173 RCV003804222 RCV003802935 RCV003801120 RCV003800363 RCV003800368 RCV003800757 RCV003801965 RCV003815743 RCV003809475 RCV003809540 RCV003815324 RCV003813436 RCV003802489 RCV003802561 RCV003805033 RCV003805034 RCV003805243 RCV003812316 RCV003810154 RCV003985948 RCV003989467 RCV004555277 RCV004555357 RCV002523927 RCV001850999 RCV002227158 RCV000763033 RCV001377005 RCV001851179 RCV002227168 RCV000679938 RCV003766687 RCV001865490 RCV001059907 RCV002470870 RCV000500314 RCV000501177 RCV000526917 RCV005625670 RCV001644622 RCV001853632 RCV000547039 RCV000544536 RCV000552285 RCV000547249 RCV000526339 RCV000528779 RCV000550890 RCV003767418 RCV003458467 RCV005213366 RCV002468594 RCV000653343 RCV000653332 RCV000653333 RCV000653321 RCV000656726 RCV001382612 RCV000703765 RCV000681661 RCV000686079 RCV000687889 RCV000703804 RCV000707561 RCV000706124 RCV000685695 RCV000694800 RCV000709715 RCV000815552 RCV001328546 RCV004555873 RCV001390633 RCV000754874 RCV000767342 RCV000790430 RCV002227217 RCV000811974 RCV000799538 RCV000817571 RCV000817011 RCV000798464 RCV000806243 RCV000796048 RCV000814263 RCV000802717 RCV000817590 RCV000805379 RCV000806796 RCV000826158 RCV000853265 RCV000990166 RCV000990167 RCV000990168 RCV000990172 RCV000990173 RCV000059291 RCV000653331 RCV005222736 RCV002514302 RCV000059312 RCV003769308 RCV001553543 RCV001029965 RCV001050623 RCV000995711 RCV003769415 RCV001063625 RCV001066880 RCV001039877 RCV001069607 RCV001041874 RCV001052581 RCV001038879 RCV001036072 RCV001217912 RCV001223292 RCV001226545 RCV001247687 RCV001244748 RCV001226222 RCV001234689 RCV001250732 RCV001250805 RCV002227260 RCV001260992 RCV001261167 RCV001880119 RCV001380079 RCV003294188 RCV001308810 RCV001301264
Episodic ataxia, type 2, and epilepsy	Pathogenic	rs267606696	RCV000009034
Familial hemiplegic migraine	Likely pathogenic; Pathogenic	rs121908211, rs121908212, rs121908213, rs121908214, rs121908237, rs121908225, rs121908217, rs886037945	RCV001533156 RCV001533159 RCV001533160 RCV001533163 RCV001533162 RCV001533157 RCV001533158 RCV002274954
Febrile seizure	Likely pathogenic	rs1600292598	RCV005623379
Focal epilepsy	Likely pathogenic; Pathogenic	rs2513709034	RCV005623523
Gait ataxia	Likely pathogenic; Pathogenic	rs1555773764	RCV000656726
Generalized hypotonia	Likely pathogenic	rs1555736565	RCV000626755
Global developmental delay	Likely pathogenic; Pathogenic	rs2145051267, rs2513031029, rs1555736565, rs121908247	RCV002286430 RCV002285127 RCV000626755 RCV000415457
Hereditary episodic ataxia	Likely pathogenic; Pathogenic	rs771682941, rs121908240	RCV004782836 RCV003398649
Intellectual disability	Likely pathogenic	rs1057519429, rs2055849544	RCV000556499 RCV001251920
Migraine	Likely pathogenic; Pathogenic	rs794727411	RCV000662176
Migraine, familial hemiplegic, 1	Pathogenic; Likely pathogenic	rs2144629622, rs2144958410, rs1296629000, rs2145245595, rs2145245078, rs886037946, rs2144773045, rs2144622461, rs2144833336, rs2144979269, rs2144980363, rs2144980726, rs2145004155, rs2144523407, rs2144647872 View all (42 more)	RCV002227282 RCV002227289 RCV002227288 RCV002227286 RCV002052185 RCV002227402 RCV002227403 RCV002227404 RCV002227405 RCV002227406 RCV002227407 RCV002227408 RCV002227409 RCV002227410 RCV002227411 RCV002227412 RCV002286483 RCV000415108 RCV006254342 RCV004007746 RCV000009008 RCV000009009 RCV000009011 RCV000009012 RCV000009020 RCV000009022 RCV000009026 RCV000009027 RCV000009028 RCV000763032 RCV000009035 RCV000009039 RCV000763034 RCV003224932 RCV003228702 RCV001267828 RCV003234838 RCV002227158 RCV000763033 RCV002227166 RCV002227168 RCV002227167 RCV005625670 RCV002227176 RCV002227178 RCV002464259 RCV002227194 RCV001197888 RCV002227217 RCV003224808 RCV000059303 RCV000059309 RCV001814259 RCV002227240 RCV001197947 RCV002227258 RCV002227260
Migraine, sporadic hemiplegic, with progressive cerebellar ataxia	Pathogenic	rs121908212	RCV000009010
Neurodevelopmental abnormality	Likely pathogenic	rs2145002387	RCV001733809
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2144767252, rs2144935933, rs2144748419, rs121909326, rs1568470104, rs121908247	RCV002274321 RCV002274322 RCV002274323 RCV002273923 RCV002274087 RCV002273953
Non-progressive congenital cerebellar ataxia	Likely pathogenic; Pathogenic	rs121908247	RCV000755049
Paroxysmal central nervous system disorders	Likely pathogenic; Pathogenic	rs1555745467	RCV006443791
Recurrent respiratory infections	Likely pathogenic; Pathogenic	rs1064794262	RCV001004002
See cases	Pathogenic	rs1568473233	RCV003128416
Seizure	Likely pathogenic; Pathogenic	rs2512858136, rs1355062450, rs121908237	RCV003412536 RCV005624411 RCV004587073
Spinocerebellar ataxia type 6	Pathogenic; Likely pathogenic	rs2059069286, rs2144956632, rs2144936093, rs1233611505, rs2144887631, rs2144629622, rs2144958410, rs1296629000, rs2145245595, rs886037946, rs2144773045, rs2144622461, rs2144833336, rs2144979269, rs2144980363 View all (44 more)	RCV001328549 RCV001542499 RCV001542500 RCV001849210 RCV001849218 RCV002227282 RCV002227289 RCV002227288 RCV002227286 RCV002227402 RCV002227403 RCV002227404 RCV002227405 RCV002227406 RCV002227407 RCV002227408 RCV002227409 RCV002227410 RCV002227411 RCV002227412 RCV002273848 RCV002508177 RCV000662178 RCV000197857 RCV003233067 RCV001542800 RCV000009018 RCV000009030 RCV000763032 RCV000009036 RCV004795386 RCV000763034 RCV003228702 RCV001808726 RCV003989026 RCV002227158 RCV000763033 RCV002227166 RCV001542801 RCV005409657 RCV002227167 RCV003228937 RCV005625670 RCV002227176 RCV001336210 RCV002227178 RCV002464259 RCV001542799 RCV001849186 RCV003458325 RCV003387919 RCV002227217 RCV003224808 RCV000059302 RCV001814259 RCV002227240 RCV001542498 RCV001253514 RCV002227260
Sporadic hemiplegic migraine	Pathogenic	rs121908217	RCV000009029
Strabismus	Likely pathogenic	rs1555736565	RCV000626755
Tip-toe gait	Likely pathogenic	rs1263091149	RCV001580140

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs117340172, rs116966283	RCV005917546 RCV005903868
Amyotrophic lateral sclerosis	Uncertain significance	rs1060499675	RCV000449585
Autism spectrum disorder	Likely benign; Conflicting classifications of pathogenicity	rs1347561457, rs768873463	RCV003126076 RCV003127274
Chorea	Uncertain significance	rs1060499675	RCV000449585
Developmental and epileptic encephalopathy, 1	Conflicting classifications of pathogenicity; Uncertain significance	rs759331923, rs776584949, rs2054617959	RCV000791013 RCV000714692 RCV001169896
Developmental and epileptic encephalopathy, 2	Conflicting classifications of pathogenicity	rs2056767982	RCV004762026
Dysarthria	Conflicting classifications of pathogenicity	rs1057518779	RCV000415249
EEG with focal epileptiform discharges	Conflicting classifications of pathogenicity	rs554393704	RCV001537639
Gastric cancer	not provided	rs121908232	RCV005890406
Hereditary cerebellar ataxia	Uncertain significance	rs1057518589	RCV005250136
Idiopathic hemiconvulsion-hemiplegia syndrome	not provided	rs1600353470	RCV000844936
Intention tremor	Conflicting classifications of pathogenicity	rs1057518779	RCV000415249
Lennox-Gastaut syndrome	Conflicting classifications of pathogenicity	rs886041654	RCV005429010
Lung cancer	Benign	rs16012	RCV005887986
Malignant lymphoma, large B-cell, diffuse	Benign	rs3765012, rs16015	RCV005905483 RCV005905643
Malignant tumor of esophagus	Likely benign	rs116966283	RCV005903869
Mild global developmental delay	Conflicting classifications of pathogenicity	rs1057518779	RCV000415249
Neurodevelopmental disorder	Uncertain significance	rs2512515042	RCV003389189
Papillary renal cell carcinoma type 1	Uncertain significance	rs1568471977	RCV005931969
Spastic ataxia	Conflicting classifications of pathogenicity	rs1568447650	RCV000855537
Spastic paraparesis	Conflicting classifications of pathogenicity	rs1057518779	RCV000415249
Subependymal giant-cell astrocytoma	Uncertain significance	rs767951499	RCV000678780
SUDDEN INFANT DEATH SYNDROME	Conflicting classifications of pathogenicity	rs201647627	RCV001788589
Undetermined early-onset epileptic encephalopathy	Uncertain significance	rs763045560	RCV003993982
Uterine corpus endometrial carcinoma	Benign	rs112198999	RCV005902183
Vascular dementia	Uncertain significance	rs1308599413	RCV001263176

Show/Hide Text Mining Associations (122)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Pain	Associate	23441182
Abnormalities Drug Induced	Associate	32336275
Alzheimer Disease	Associate	34151794
Anxiety	Associate	10202246
Aphasia	Associate	25735478, 34102571
Ataxia	Associate	11439943, 18437043, 21088341, 25735478, 26716990, 28096552, 29470411, 29915382, 32336275, 32692472, 32791484, 34068417, 37301203, 38175838, 9345107
Ataxia	Stimulate	20069235
Ataxia Telangiectasia Like Disorder	Associate	29915382
Atrophy	Associate	25274239
Attention Deficit Disorder with Hyperactivity	Associate	25735478
Autism Spectrum Disorder	Associate	26566276, 35722745, 36320054
Autism Spectrum Disorder	Stimulate	26566276
Autistic Disorder	Associate	25735478, 26566276
Benign Paroxysmal Positional Vertigo	Associate	29926469, 30710491, 31115040
Bipolar Disorder	Associate	28751646
Brain Concussion	Associate	32233732
Brain Diseases	Associate	23934111, 25735478, 27476654, 29366381, 29997391, 39667411
Brain Edema	Associate	15743764, 35655070
CADASIL	Associate	27881154
Calcium Metabolism Disorders	Associate	11179022, 32692472
Cerebellar Ataxia	Associate	12545428, 18437043, 18949263, 29482223, 9311738, 9507387, 9915947
Cerebellar Diseases	Associate	11439943, 18670797, 21372168, 22258915, 22969264, 25735478, 31115040, 32336275, 33557884, 34068417, 34102571, 34320921, 35326432, 38003592
Cerebellar Hypoplasia	Associate	36305856, 38003592
Cerebral Infarction	Associate	32692472
Channelopathies	Associate	31640633
Charcot Marie Tooth disease Type 1D	Associate	40725423
Chronobiology Disorders	Associate	32336275
Cognition Disorders	Associate	25735478, 29926469, 31115040, 32692472
Coma	Associate	15743764, 22969264
Congenital Abnormalities	Associate	34068417
Congenital disorder of glycosylation type 1A	Associate	29470411
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	32692472
Congenital Hyperinsulinism	Associate	23869231
Consciousness Disorders	Associate	25274239, 28750589
Conversion Disorder	Associate	34371182
COVID 19	Associate	36104591
Craniocerebral Trauma	Associate	15743764, 32233732
Death	Associate	35655070
Depressive Disorder	Associate	15743764
Developmental Disabilities	Associate	26814174, 31115040, 32336275, 33557884, 34068417, 34102571, 34263451, 34727962, 35655070, 35722745, 37301203, 39667411, 40725423
Diabetes Mellitus Type 1	Associate	30543678
Diastrophic dysplasia	Associate	40725423
Disease Resistance	Associate	26216687
Disorders of Sex Development	Associate	35432193
Drug Resistant Epilepsy	Associate	26216687, 34102571
Dysarthria	Associate	35655070
Dyslexia Acquired	Associate	29366381
Dystonia	Associate	35722745
Ectodermal Dysplasia	Associate	31578829
Epilepsy	Associate	20156848, 25735478, 29056246, 30185235, 30977854, 32692472, 34102571, 34263451, 34727962, 35305402, 35655070, 35722745, 37651830, 39950246, 40725423
Epilepsy Absence	Associate	20561025, 34102571
Epilepsy Generalized	Associate	29924869
Epilepsy Tonic Clonic	Associate	34263451
Epileptic Encephalopathy Early Infantile 3	Associate	37651830, 39667411
Episodic Ataxia	Associate	18437043, 20156848, 25735478, 26814174, 28096552, 28566750, 29062094, 30167989, 31115040, 32336275, 34102571, 34320921, 35655070, 40149486, 9771787, 9915947 View all (1 more)
Episodic Ataxia Type 2	Associate	11179022, 11748369, 12707077, 17161621, 20156848, 23441182, 24046065, 25735478, 26814174, 26912519, 28096552, 28566750, 29366381, 30314295, 31640633 View all (10 more)
Exfoliation Syndrome	Associate	26648185
Friedreich Ataxia	Associate	9429138
Gait Disorders Neurologic	Associate	29366381, 34102571
Genetic Diseases Inborn	Associate	11748369, 30933216, 32336275
Growth Disorders	Associate	29366381
Hand Injuries	Associate	29366381
Heart Arrest	Associate	34727962
Heart Diseases	Associate	10749862
Hemiplegia	Associate	34941060
Hemiplegic migraine familial type 1	Associate	15449251, 27059879, 28573794, 30167989, 32336275, 34102571, 34941060
Hypertension	Associate	27418245, 32111194
Infantile Epileptic Dyskinetic Encephalopathy	Associate	33557884
Intellectual Disability	Associate	33278787, 34727962, 35722745, 36320054, 40725423
Learning Disabilities	Associate	31115040
Leiomyoma	Associate	34440356
Lung Neoplasms	Associate	20849603
Lymphoma Large B Cell Diffuse	Associate	39261532
Mental Disorders	Associate	34727962, 35722745
Microphthalmia Syndromic 10	Associate	25274239
Migraine Disorders	Associate	15449251, 25274239, 26747084, 30167989, 31640633, 34941060, 35655070, 39781574
Migraine Familial Hemiplegic 3	Associate	39781574
Migraine Sporadic Hemiplegic	Associate	26716990
Migraine with Aura	Associate	10202246, 11179022, 11439943, 11748369, 12162387, 12707077, 15743764, 17119788, 18056581, 18670797, 19819557, 22784462, 22969264, 25274239, 26814174 View all (24 more)
Migraine without Aura	Associate	15449251
Movement Disorders	Associate	39667411
Muscle Hypertonia	Associate	29366381
Muscle Hypotonia	Associate	35655070
Muscular Atrophy Spinal	Associate	36607273
Myoclonic Epilepsies Progressive	Associate	32626992
Myoclonic Epilepsies Progressive	Stimulate	9758625
Myotonic Dystrophy	Associate	34371182
Neoplasms	Associate	20849603
Neurologic Manifestations	Associate	26716990, 32233732, 33557884, 34941060, 35655070
Nystagmus Congenital	Associate	26814174
Nystagmus Pathologic	Associate	11439943, 18437043, 18670797, 25735478, 9771787
Ocular Motility Disorders	Associate	26814174
Ovarian Neoplasms	Associate	22871047
Paranoid Disorders	Associate	10202246
Paresis	Associate	25274239
Paroxysmal Tonic Upgaze Benign Childhood With Ataxia	Associate	26814174, 31115040, 38175838
Pathological Conditions Anatomical	Associate	37651830
Peripheral Nervous System Diseases	Associate	29581247
Pressure Ulcer	Associate	27418245
Prostatic Neoplasms	Associate	39318189
Psychotic Disorders	Associate	39950246
Q Fever	Associate	11179022, 20156848
Rett Syndrome	Associate	29366381
Rhinitis Vasomotor	Associate	29366381
Scoliosis	Associate	29366381
Seizures	Associate	28750589, 29366381, 32233732, 34102571, 34263451, 34727962, 35305402, 35655070, 35722745
Sleep Wake Disorders	Associate	29366381
Spinocerebellar Ataxia 11	Associate	37301203, 9429138
Spinocerebellar Ataxias	Associate	10051016, 11179022, 11717352, 11748369, 11986402, 12545428, 12707077, 18949263, 21550405, 25735478, 26814174, 27806289, 28946818, 29366381, 31121118 View all (9 more)
Spinocerebellar Ataxias	Stimulate	29316893
Spinocerebellar Degenerations	Stimulate	21592489
Spinocerebellar Degenerations	Associate	26716990, 34068417, 35326432, 35655070
Status Epilepticus	Associate	33278787, 34102571, 34263451, 35722745
Stroke	Associate	32692472, 34102571
Teratoma	Associate	32791484
Thalassemia Beta+ Silent Allele	Associate	30933216
Tooth Loss	Associate	21372168
Torticollis	Associate	12162387, 29926469, 31115040
Trigeminal Neuralgia	Associate	33413531
Urinary Bladder Neoplasms	Associate	24577895
Vertigo	Associate	9771787
X Linked Combined Immunodeficiency Diseases	Associate	18949263

CACNA1A (calcium voltage-gated channel subunit alpha1 A)