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	6331
Gene name	Sodium voltage-gated channel alpha subunit 5
Gene symbol	SCN5A
Synonyms (NCBI Gene)	CDCD2CMD1ECMPD2HB1HB2HBBDHH1ICCDIVFLQT3Nav1.5PFHB1SSS1VF1
Chromosome	3
Chromosome location	3p22.2
Summary	The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an e

342

Show/Hide all (342)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1805124	T>C	Pathogenic, likely-benign, benign	Coding sequence variant, missense variant
rs7626962	G>A,T	Pathogenic, benign, likely-benign, benign-likely-benign, risk-factor	Coding sequence variant, intron variant, missense variant
rs12720064	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs12720452	C>T	Likely-benign, uncertain-significance, pathogenic, not-provided	Missense variant, coding sequence variant
rs28937316	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs28937317	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs28937318	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs28937319	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs41261344	C>T	Pathogenic, risk-factor, uncertain-significance, benign-likely-benign, benign	Coding sequence variant, missense variant
rs41276525	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs41311117	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign, not-provided	Coding sequence variant, missense variant
rs41311121	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs41313031	G>A	Likely-benign, pathogenic, benign	Coding sequence variant, missense variant
rs41313033	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, benign, likely-benign	Coding sequence variant, synonymous variant
rs41315493	C>A,T	Uncertain-significance, benign-likely-benign, benign, likely-pathogenic, likely-benign, not-provided	Coding sequence variant, missense variant
rs45471994	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, likely-benign, not-provided	Intron variant, coding sequence variant, missense variant
rs45475899	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs45489199	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs45514691	G>A,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs45546039	C>A,T	Pathogenic, not-provided	Intron variant, coding sequence variant, missense variant
rs45553235	G>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs45563942	A>G	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs45620037	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, likely-benign, not-provided	Intron variant, coding sequence variant, missense variant
rs61737825	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72549410	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs72549411	G>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, uncertain-significance	Intron variant
rs137854600	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs137854601	C>A,T	Pathogenic, likely-pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs137854602	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs137854603	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs137854604	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs137854605	GA>TT	Pathogenic	Missense variant, coding sequence variant
rs137854606	C>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs137854607	C>G,T	Pathogenic, likely-pathogenic, not-provided	Missense variant, intron variant, coding sequence variant
rs137854608	C>T	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs137854609	C>A,T	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs137854610	C>T	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs137854611	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs137854612	C>T	Pathogenic	Missense variant, coding sequence variant
rs137854613	G>A,T	Pathogenic, uncertain-significance	Stop gained, synonymous variant, coding sequence variant
rs137854614	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs137854615	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs137854616	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs137854617	C>A,T	Pathogenic, likely-pathogenic, not-provided, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs137854618	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs137854619	C>T	Benign, likely-benign, pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs137854620	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs150264233	G>A,T	Conflicting-interpretations-of-pathogenicity, benign, pathogenic, uncertain-significance, likely-benign	Stop gained, coding sequence variant, missense variant
rs187531872	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs199473044	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473045	C>A,T	Pathogenic, not-provided, likely-benign	Coding sequence variant, missense variant
rs199473054	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473055	G>A,C	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473058	C>T	Pathogenic	Coding sequence variant, missense variant
rs199473062	C>A,G,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs199473070	A>G,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs199473071	C>T	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs199473072	G>A	Pathogenic, not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs199473073	A>G	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs199473078	C>G	Not-provided, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199473082	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473083	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473097	G>A	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473100	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473101	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199473105	A>G	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473108	G>A,C,T	Not-provided, likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs199473111	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs199473112	G>A,C	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473115	G>A,C	Pathogenic, not-provided	Coding sequence variant, synonymous variant, missense variant
rs199473118	G>A	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473119	G>A,T	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473121	C>T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473124	A>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473149	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473153	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs199473156	A>C,G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473161	G>A,T	Pathogenic, likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs199473165	T>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473168	G>A	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473169	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs199473171	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473172	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473175	G>A,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs199473180	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473182	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473183	A>G	Likely-benign, not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473187	G>A	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473198	T>G	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473207	G>A	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473211	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs199473218	C>A,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs199473220	C>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199473222	C>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473224	C>G,T	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473225	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199473226	T>C	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473249	C>A,G	Not-provided, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs199473253	G>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473259	G>C,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473260	T>C	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473262	T>C,G	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473263	A>G	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473266	G>C	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473282	G>A,T	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473283	C>A,G,T	Pathogenic, not-provided, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199473284	G>A,C	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs199473286	C>T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473288	G>A,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473292	C>G,T	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473293	C>G,T	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473303	G>A,T	Pathogenic, not-provided, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs199473305	C>T	Pathogenic	Coding sequence variant, missense variant
rs199473310	T>A,C,G	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473311	T>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473315	A>G,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473316	C>G,T	Pathogenic, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473318	T>C,G	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473324	A>G,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473326	T>C	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473331	C>A,G,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473335	G>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473554	C>T	Pathogenic	Coding sequence variant, missense variant
rs199473556	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199473559	G>A,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473565	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199473573	A>C	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473576	G>A,C	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473579	C>A,T	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs199473584	C>T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473592	C>G,T	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473598	C>A,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs199473603	G>A	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473606	C>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant, stop gained
rs199473609	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473613	T>C	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473620	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, intron variant
rs199473621	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs199473623	C>T	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473625	T>C	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473628	T>C	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473631	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473633	T>A,C	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473635	G>A	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473638	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200034939	C>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs200334972	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs200569112	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs200868190	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs368678204	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs368980118	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, synonymous variant
rs369704754	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, missense variant
rs370346797	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs370438420	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs370588133	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs370694515	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs372395294	T>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs373172185	A>G,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs374557801	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397514251	GGGGCTTCT>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs397514252	->TT	Pathogenic	Intron variant
rs397514446	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs397514447	A>G	Pathogenic	Splice donor variant
rs397514448	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs397514449	->CAT	Pathogenic	Inframe insertion, coding sequence variant
rs397514450	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs483353016	C>T	Likely-pathogenic	Splice donor variant
rs557957405	C>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587781159	G>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity, benign	Stop gained, coding sequence variant, synonymous variant
rs727503411	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs727504801	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs727505158	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880211	GC>AA	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs748312802	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs749697698	AAG>-	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, inframe deletion
rs750013499	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs751050999	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs754221948	G>A	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, splice donor variant
rs756159737	CT>-	Likely-pathogenic, pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs756474485	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs757532106	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Stop gained, coding sequence variant
rs759235726	G>A	Likely-pathogenic	Splice acceptor variant
rs759924541	C>A,G,T	Pathogenic-likely-pathogenic, uncertain-significance	Stop gained, intron variant, missense variant, coding sequence variant
rs760011764	A>G	Likely-pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs761117662	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs761505217	G>A	Pathogenic	Stop gained, coding sequence variant
rs765669597	A>C,T	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, stop gained
rs766751878	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs772258197	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs774537241	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs777689378	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs780761880	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs786204839	A>G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs786205271	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs794728843	C>T	Pathogenic, likely-pathogenic	Splice donor variant
rs794728846	C>T	Likely-pathogenic	Splice acceptor variant
rs794728847	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728849	G>A,C	Pathogenic, likely-pathogenic	Missense variant, intron variant, stop gained, coding sequence variant
rs794728850	T>G	Pathogenic	Intron variant, coding sequence variant, synonymous variant
rs794728851	C>T	Pathogenic	Stop gained, coding sequence variant
rs794728854	G>A,T	Likely-benign, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs794728858	C>T	Pathogenic	Splice acceptor variant
rs794728859	T>C	Pathogenic	Splice acceptor variant
rs794728864	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs794728865	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs794728868	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs794728873	G>A	Pathogenic	Stop gained, coding sequence variant
rs794728875	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794728876	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794728877	G>A	Pathogenic	Missense variant, coding sequence variant
rs794728879	C>A,G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs794728880	A>G,T	Likely-pathogenic	Splice donor variant
rs794728885	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728888	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728889	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794728890	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794728891	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs794728892	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728893	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728895	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728897	A>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794728898	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794728900	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs794728902	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728903	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728906	GCTT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728907	GC>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728908	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728909	C>-	Pathogenic	Stop gained, coding sequence variant
rs794728910	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728911	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728912	C>-	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728914	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728915	T>GGG	Pathogenic	Frameshift variant, coding sequence variant
rs794728917	CACAGCGATGGG>ACACAGTCAGA	Pathogenic	Frameshift variant, coding sequence variant
rs794728918	->G	Pathogenic	Frameshift variant, coding sequence variant
rs794728919	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728920	TGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs794728921	CTC>-	Pathogenic	Splice acceptor variant, intron variant, coding sequence variant
rs794728922	GTT>-	Not-provided, likely-pathogenic	Inframe deletion, coding sequence variant
rs794728924	ACAG>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728928	A>G,T	Pathogenic	Splice donor variant
rs794728931	C>T	Pathogenic	Stop gained, coding sequence variant
rs794728934	A>G,T	Pathogenic, uncertain-significance	Intron variant
rs794728936	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728938	C>A,G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs794728940	G>A	Uncertain-significance, not-provided, pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs794728941	G>C,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs794728942	->GT	Pathogenic	Frameshift variant, coding sequence variant
rs794728943	T>-	Pathogenic	Splice acceptor variant, intron variant
rs794728944	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728945	->TCAGA	Pathogenic	Stop gained, coding sequence variant
rs863224532	G>C	Pathogenic	Stop gained, coding sequence variant
rs863224533	AAG>TAC	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs863225273	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs869025517	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs869025519	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs869025520	G>A	Pathogenic, likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs869025522	TCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs869025523	->CA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs878855287	CCACAGCGATGGG>ACACAGTCAGA	Pathogenic	Frameshift variant, coding sequence variant
rs878855292	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs878855296	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs886037903	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886039018	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039455	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886041848	C>T	Pathogenic	Stop gained, coding sequence variant
rs977717858	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518916	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057523393	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524447	C>T	Likely-pathogenic	Splice donor variant
rs1060499940	GTA>-	Pathogenic	Inframe deletion, coding sequence variant
rs1060499941	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs1060501114	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060501127	AGTG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1060501130	C>A	Likely-pathogenic	Splice donor variant
rs1060501135	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060501136	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1060501142	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060501145	C>A	Pathogenic	Stop gained, coding sequence variant
rs1064792926	GGTGGCAATGCAG>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1064793326	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793651	->ATTGGAA	Pathogenic	Frameshift variant, coding sequence variant
rs1064794424	->TCAC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064795085	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1064795784	A>-	Pathogenic, likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1064796233	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1085307527	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1085307710	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1131691708	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1204915217	C>T	Likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant
rs1207394743	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1237724419	C>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1312714061	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1366120635	C>T	Pathogenic, likely-pathogenic	Splice donor variant
rs1377226524	C>T	Likely-pathogenic	Splice acceptor variant
rs1417036453	G>A	Pathogenic	Coding sequence variant, stop gained
rs1450434935	C>-,CC	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1474459822	->ATC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1480085793	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553605932	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553607561	A>T	Pathogenic	Stop gained, coding sequence variant
rs1553607722	T>A	Likely-pathogenic	Missense variant, initiator codon variant
rs1553692416	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553692660	AG>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1553692734	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553694426	G>-	Pathogenic	Stop gained, coding sequence variant
rs1553695282	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1553695398	CGGGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553695764	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553695847	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553696647	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553698563	C>G	Likely-pathogenic	Splice acceptor variant
rs1553699292	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553699607	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553699663	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553699747	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553699766	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553700699	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553703211	C>T	Likely-pathogenic	Splice donor variant
rs1553704183	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553704878	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553704898	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553705586	T>C	Likely-pathogenic	Splice acceptor variant
rs1553706324	C>G	Uncertain-significance, likely-pathogenic	Splice acceptor variant, intron variant
rs1559720176	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1559720870	TA>-	Pathogenic	Stop gained, coding sequence variant
rs1559720961	CTCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559721331	A>C	Pathogenic	Missense variant, coding sequence variant
rs1559725687	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559727990	G>A	Pathogenic	Stop gained, coding sequence variant
rs1559729142	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1559738598	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1559778838	G>A,C	Likely-benign, likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs1575703249	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1575705549	ATG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1575706847	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575719863	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1575728590	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575751854	G>A	Pathogenic	Coding sequence variant, stop gained
rs1575773471	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1575853007	T>C	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT732135	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	26209011
MIRT732135	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	26209011
MIRT732135	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	26209011
MIRT732135	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	26209011
MIRT1330206	hsa-miR-1299	CLIP-seq
MIRT1330207	hsa-miR-3924	CLIP-seq
MIRT1330208	hsa-miR-3944-5p	CLIP-seq
MIRT1330209	hsa-miR-4277	CLIP-seq
MIRT1330210	hsa-miR-4289	CLIP-seq
MIRT1330211	hsa-miR-4782-5p	CLIP-seq
MIRT1330212	hsa-miR-516b	CLIP-seq
MIRT1330213	hsa-miR-548c-3p	CLIP-seq
MIRT1330214	hsa-miR-875-3p	CLIP-seq
MIRT2097820	hsa-miR-1225-3p	CLIP-seq
MIRT2097821	hsa-miR-1233	CLIP-seq
MIRT2097822	hsa-miR-3064-3p	CLIP-seq
MIRT2097823	hsa-miR-3065-3p	CLIP-seq
MIRT2097824	hsa-miR-3127-3p	CLIP-seq
MIRT2097825	hsa-miR-365	CLIP-seq
MIRT2097826	hsa-miR-4291	CLIP-seq
MIRT2097827	hsa-miR-4313	CLIP-seq
MIRT2097828	hsa-miR-4464	CLIP-seq
MIRT2097829	hsa-miR-4640-5p	CLIP-seq
MIRT2097830	hsa-miR-4659a-5p	CLIP-seq
MIRT2097831	hsa-miR-4659b-5p	CLIP-seq
MIRT2097832	hsa-miR-4688	CLIP-seq
MIRT2097833	hsa-miR-4719	CLIP-seq
MIRT2097834	hsa-miR-4726-5p	CLIP-seq
MIRT2097835	hsa-miR-4748	CLIP-seq
MIRT2097836	hsa-miR-4776-3p	CLIP-seq
MIRT2097837	hsa-miR-759	CLIP-seq
MIRT2322120	hsa-miR-3184	CLIP-seq
MIRT2322121	hsa-miR-423-5p	CLIP-seq
MIRT2458947	hsa-miR-1236	CLIP-seq
MIRT2458948	hsa-miR-1238	CLIP-seq
MIRT1330206	hsa-miR-1299	CLIP-seq
MIRT2458949	hsa-miR-2277-3p	CLIP-seq
MIRT2458950	hsa-miR-3183	CLIP-seq
MIRT2458951	hsa-miR-4269	CLIP-seq
MIRT2458952	hsa-miR-4514	CLIP-seq
MIRT2458953	hsa-miR-4692	CLIP-seq
MIRT2458954	hsa-miR-4723-3p	CLIP-seq
MIRT2458955	hsa-miR-4742-5p	CLIP-seq
MIRT1330211	hsa-miR-4782-5p	CLIP-seq
MIRT1330212	hsa-miR-516b	CLIP-seq
MIRT2458956	hsa-miR-542-3p	CLIP-seq
MIRT1330214	hsa-miR-875-3p	CLIP-seq
MIRT1330206	hsa-miR-1299	CLIP-seq
MIRT2458949	hsa-miR-2277-3p	CLIP-seq
MIRT1330211	hsa-miR-4782-5p	CLIP-seq
MIRT1330212	hsa-miR-516b	CLIP-seq
MIRT2458956	hsa-miR-542-3p	CLIP-seq
MIRT1330214	hsa-miR-875-3p	CLIP-seq
MIRT2618509	hsa-miR-4271	CLIP-seq
MIRT2618510	hsa-miR-4459	CLIP-seq
MIRT2618511	hsa-miR-4700-3p	CLIP-seq
MIRT2618512	hsa-miR-4725-3p	CLIP-seq
MIRT2618513	hsa-miR-4779	CLIP-seq
MIRT2618514	hsa-miR-5095	CLIP-seq
MIRT2618515	hsa-miR-600	CLIP-seq
MIRT2618509	hsa-miR-4271	CLIP-seq
MIRT2618510	hsa-miR-4459	CLIP-seq
MIRT2618511	hsa-miR-4700-3p	CLIP-seq
MIRT2618512	hsa-miR-4725-3p	CLIP-seq
MIRT2618513	hsa-miR-4779	CLIP-seq
MIRT2618514	hsa-miR-5095	CLIP-seq
MIRT2618515	hsa-miR-600	CLIP-seq

103

Show/Hide all (103)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IC	14500339
GO:0001518	Component	Voltage-gated sodium channel complex	IDA	19808477, 20042427, 21051419, 24567321
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0002027	Process	Regulation of heart rate	IMP	10471492, 18065446, 18616619, 21895525, 22529811, 23085483, 26279430, 26392562
GO:0003161	Process	Cardiac conduction system development	NAS	26786210
GO:0003231	Process	Cardiac ventricle development	ISS
GO:0003360	Process	Brainstem development	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IDA	14500339, 17592081, 19074138, 19943616, 21895525, 22514276
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	23085483, 26279430, 26392562
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	16728661, 16930557, 17592081, 18184654, 18591664, 19943616, 22514276, 22705208, 26392562, 32296183
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	IPI	21167176
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	22529811
GO:0005886	Component	Plasma membrane	IDA	16728661, 17060380, 22529811
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	23085483, 26279430
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	IDA	23420830
GO:0005901	Component	Caveola	TAS	17060380
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IDA	19074138, 22514276
GO:0006814	Process	Sodium ion transport	IEA
GO:0009986	Component	Cell surface	IDA	14500339, 19666841, 19943616
GO:0010765	Process	Positive regulation of sodium ion transport	IDA	14500339, 18065446, 19808477, 22529811
GO:0014704	Component	Intercalated disc	IDA	15579534
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS	18184654
GO:0014894	Process	Response to denervation involved in regulation of muscle adaptation	ISS
GO:0016020	Component	Membrane	IDA	19074138
GO:0016020	Component	Membrane	IEA
GO:0016328	Component	Lateral plasma membrane	TAS	21164104
GO:0017134	Function	Fibroblast growth factor binding	IPI	12401812
GO:0019899	Function	Enzyme binding	IPI	19666841
GO:0019901	Function	Protein kinase binding	IPI	22514276
GO:0019904	Function	Protein domain specific binding	IPI	19943616
GO:0021537	Process	Telencephalon development	ISS
GO:0021549	Process	Cerebellum development	ISS
GO:0030018	Component	Z disc	IDA	19943616
GO:0030315	Component	T-tubule	IDA	15579534
GO:0030315	Component	T-tubule	IEA
GO:0030506	Function	Ankyrin binding	IPI	15579534
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	15217910
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	14500339, 19943616, 21051419
GO:0035725	Process	Sodium ion transmembrane transport	IMP	21895525, 23085483, 26279430, 26392562
GO:0042383	Component	Sarcolemma	IDA	17060380
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS
GO:0044325	Function	Transmembrane transporter binding	IPI	20042427, 24998131
GO:0045760	Process	Positive regulation of action potential	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	ISS
GO:0050998	Function	Nitric-oxide synthase binding	IPI	18591664
GO:0051899	Process	Membrane depolarization	IDA	14500339, 21051419, 21895525
GO:0055085	Process	Transmembrane transport	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	18065446, 21895525, 22529811
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	7889574
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IEA
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IMP	19167345, 22247482
GO:0060372	Process	Regulation of atrial cardiac muscle cell membrane repolarization	IMP	19167345
GO:0060373	Process	Regulation of ventricular cardiac muscle cell membrane depolarization	IMP	7889574, 18065446, 22529811
GO:0070161	Component	Anchoring junction	IEA
GO:0071277	Process	Cellular response to calcium ion	IDA	19074138
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	21895525
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IMP	22529811
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	22529811
GO:0086006	Function	Voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IDA	18065446, 19808477
GO:0086006	Function	Voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IEA
GO:0086006	Function	Voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IMP	18616619, 21895525, 22529811
GO:0086010	Process	Membrane depolarization during action potential	IDA	14500339, 18065446, 22529811
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IMP	21895525
GO:0086014	Process	Atrial cardiac muscle cell action potential	IMP	18065446
GO:0086015	Process	SA node cell action potential	IMP	18616619
GO:0086016	Process	AV node cell action potential	IEA
GO:0086016	Process	AV node cell action potential	IMP	18616619
GO:0086043	Process	Bundle of His cell action potential	IEA
GO:0086043	Process	Bundle of His cell action potential	IMP	18065446
GO:0086045	Process	Membrane depolarization during AV node cell action potential	IMP	18616619
GO:0086046	Process	Membrane depolarization during SA node cell action potential	IMP	18616619
GO:0086047	Process	Membrane depolarization during Purkinje myocyte cell action potential	IMP	22766342
GO:0086048	Process	Membrane depolarization during bundle of His cell action potential	IMP	18065446
GO:0086060	Function	Voltage-gated sodium channel activity involved in AV node cell action potential	IMP	18616619
GO:0086061	Function	Voltage-gated sodium channel activity involved in bundle of His cell action potential	IMP	18065446
GO:0086062	Function	Voltage-gated sodium channel activity involved in Purkinje myocyte action potential	IMP	22766342
GO:0086063	Function	Voltage-gated sodium channel activity involved in SA node cell action potential	IMP	18616619
GO:0086067	Process	AV node cell to bundle of His cell communication	IMP	10471492
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	21895525
GO:0097110	Function	Scaffold protein binding	IPI	17060380
GO:0098912	Process	Membrane depolarization during atrial cardiac muscle cell action potential	IMP	18065446
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IDA	18591664

MIM	HGNC	e!Ensembl
600163	10593	ENSG00000183873

Q14524

Protein name

Sodium channel protein type 5 subunit alpha (Sodium channel protein cardiac muscle subunit alpha) (Sodium channel protein type V subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.5) (hH1)

Protein function

Pore-forming subunit of Nav1.5, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent s

PDB

2KBI , 2L53 , 4DCK , 4DJC , 4JQ0 , 4OVN , 5DBR , 6LQA , 6MUD , 7DTC , 7L83 , 8VYJ , 8VYK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	130 → 423	Ion transport protein	Family
PF11933	Na_trans_cytopl	478 → 667	Cytoplasmic domain of voltage-gated Na+ ion channel	Family
PF00520	Ion_trans	716 → 948	Ion transport protein	Family
PF06512	Na_trans_assoc	953 → 1200	Sodium ion transport-associated	Family
PF00520	Ion_trans	1204 → 1481	Ion transport protein	Family
PF00520	Ion_trans	1527 → 1783	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Found in jejunal circular smooth muscle cells (at protein level). Expressed in human atrial and ventricular cardiac muscle but not in adult skeletal muscle, brain, myometrium, liver, or spleen. Isoform 4 is expressed in brain. {ECO:000

Sequence

MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREGLPEEEAPRPQLDLQA
SKKLPDLYGNPPQELIGEPLEDLDPFYSTQKTFIVLNKGKTIFRFSATNALYVLSPFHPI
RRAAVKILVHSLFNMLIMCTILTNCVFMAQHDPPPWTKYVEYTFTAIYTFESLVKILARG
FCLHAFTFLRDPWNWLDFSVIIMAYTTEFVDLGNVSALRTFRVLRALKTISVISGLKTIV
GALIQSVKKLADVMVLTVFCLSVFALIGLQLFMGNLRHKCVRNFTALNGTNGSVEADGLV
WESLDLYLSDPENYLLKNGTSDVLLCGNSSDAGTCPEGYRCLKAGENPDHGYTSFDSFAW
AFLALFRLMTQDCWERLYQQTLRSAGKIYMIFFMLVIFLGSFYLVNLILAVVAMAYEEQN
QATIAETEEKEKRFQEAMEMLKKEHEALTIRGVDTVSRSSLEMSPLAPVNSHERRSKRRK
RMSSGTEECGEDRLPKSDSEDGPRAMNHLSLTRGLSRTSMKPRSSRGSIFTFRRRDLGSE
ADFADDENSTAGESESHHTSLLVPWPLRRTSAQGQPSPGTSAPGHALHGKKNSTVDCNGV
VSLLGAGDPEATSPGSHLLRPVMLEHPPDTTTPSEEPGGPQMLTSQAPCVDGFEEPGARQ
RALSAVSVLTSALEELEESRHKCPPCWNRLAQRYLIWECCPLWMSIKQGVKLVVMDPFTD
LTITMCIVLNTLFMALEHYNMTSEFEEMLQVGNLVFTGIFTAEMTFKIIALDPYYYFQQG
WNIFDSIIVILSLMELGLSRMSNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVGALG
NLTLVLAIIVFIFAVVGMQLFGKNYSELRDSDSGLLPRWHMMDFFHAFLIIFRILCGEWI
ETMWDCMEVSGQSLCLLVFLLVMVIGNLVVLNLFLALLLSSFSADNLTAPDEDREMNNLQ
LALARIQRGLRFVKRTTWDFCCGLLRQRPQKPAALAAQGQLPSCIATPYSPPPPETEKVP
PTRKETRFEEGEQPGQGTPGDPEPVCVPIAVAESDTDDQEEDEENSLGTEEESSKQQESQ
PVSGGPEAPPDSRTWSQVSATASSEAEASASQADWRQQWKAEPQAPGCGETPEDSCSEGS
TADMTNTAELLEQIPDLGQDVKDPEDCFTEGCVRRCPCCAVDTTQAPGKVWWRLRKTCYH
IVEHSWFETFIIFMILLSSGALAFEDIYLEERKTIKVLLEYADKMFTYVFVLEMLLKWVA
YGFKKYFTNAWCWLDFLIVDVSLVSLVANTLGFAEMGPIKSLRTLRALRPLRALSRFEGM
RVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFGRCINQTEGDLPLNYTIVNN
KSQCESLNLTGELYWTKVKVNFDNVGAGYLALLQVATFKGWMDIMYAAVDSRGYEEQPQW
EYNLYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKK
LGSKKPQKPIPRPLNKYQGFIFDIVTKQAFDVTIMFLICLNMVTMMVETDDQSPEKINIL
AKINLLFVAIFTGECIVKLAALRHYYFTNSWNIFDFVVVILSIVGTVLSDIIQKYFFSPT
LFRVIRLARIGRILRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMANFA
YVKWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDPTLPNSNGSRG
DCGSPAVGILFFTTYIIISFLIVVNMYIAIILENFSVATEESTEPLSEDDFDMFYEIWEK
FDPEATQFIEYSVLSDFADALSEPLRIAKPNQISLINMDLPMVSGDRIHCMDILFAFTKR
VLGESGEMDALKIQMEEKFMAANPSKISYEPITTTLRRKHEEVSAMVIQRAFRRHLLQRS
LKHASFLFRQQAGSGLSEEDAPEREGLIAYVMSENFSRPLGPPSSSSISSTSFPPSYDSV
TRATSDNLQVRGSDYSHSEDLADFPPSPDRDRESIV

Sequence length

2016

Interactions

View interactions

	KEGG		Reactome
	Adrenergic signaling in cardiomyocytes		Phase 0 - rapid depolarisation

6822

Show/Hide Causal Diseases (36)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrial fibrillation	Likely pathogenic	rs199473324	RCV000058796
Atrial fibrillation, familial, 10	Likely pathogenic; Pathogenic	rs137854607, rs137854618, rs199473175, rs199473556	RCV001329632 RCV000022946 RCV004795996 RCV004764901
ATRIAL STANDSTILL 1, DIGENIC	Pathogenic	rs137854618	RCV000114992
Atrioventricular block	Likely pathogenic; Pathogenic	rs137854607	RCV000058705
Brugada syndrome	Pathogenic; Likely pathogenic	rs1320531023, rs2125910133, rs2125835486, rs770059377, rs2125849528, rs766127222, rs2125830430, rs483353016, rs2125935492, rs727505158, rs727503411, rs727504801, rs2061175467, rs786204839, rs794728924 View all (86 more)	RCV004006850 RCV004803681 RCV001725874 RCV001775049 RCV001787292 RCV001787293 RCV001787297 RCV000155938 RCV004005549 RCV000156628 RCV000151808 RCV000156127 RCV004555900 RCV004804781 RCV003996819 RCV000826183 RCV004804803 RCV000201886 RCV003996817 RCV000614105 RCV003996808 RCV003996806 RCV000604031 RCV000201896 RCV000208493 RCV000208454 RCV000208042 RCV003996083 RCV000208193 RCV004017232 RCV000058390 RCV000058488 RCV000058649 RCV000058777 RCV000058604 RCV003998945 RCV003999007 RCV004804976 RCV004011564 RCV004011565 RCV004011566 RCV003883490 RCV003991521 RCV004015067 RCV004016669 RCV004016195 RCV004018070 RCV004018073 RCV004018074 RCV004018075 RCV004018255 RCV004018346 RCV004555765 RCV000058715 RCV000476938 RCV004003324 RCV004002278 RCV004802101 RCV000604844 RCV000609448 RCV000610147 RCV004802288 RCV001066521 RCV000818046 RCV000825606 RCV000825605 RCV004555877 RCV000058387 RCV000058388 RCV000466350 RCV000058394 RCV000058396 RCV000058487 RCV000058491 RCV000058501 RCV000058513 RCV000058514 RCV000058516 RCV000058518 RCV000058522 RCV000058549 RCV000058582 RCV000058583 RCV000058616 RCV000058623 RCV000058664 RCV000058694 RCV000058710 RCV000058721 RCV000058752 RCV000058753 RCV000058754 RCV004804040 RCV000058851 RCV003991037 RCV001030819 RCV001051667 RCV001070853 RCV004000074 RCV001175240 RCV004017796 RCV001234740
Brugada syndrome (shorter-than-normal QT interval)	Pathogenic; Likely pathogenic	rs2125935394, rs730880210, rs1553694398, rs2471658977, rs1060501136, rs1553695764, rs1559738598, rs1553699766, rs1480085793, rs199473565, rs199473055, rs199473220, rs1200777248	RCV005419262 RCV003492635 RCV003236356 RCV005240865 RCV005239022 RCV000590334 RCV000780701 RCV000781839 RCV001194085 RCV000588086 RCV003317072 RCV001553760 RCV001264588
Brugada syndrome 1	Likely pathogenic; Pathogenic	rs766127222, rs2125830430, rs1450434935, rs2125914209, rs2125826148, rs794728935, rs2125935492, rs727505158, rs730880210, rs2061175467, rs1060501142, rs749697698, rs794728918, rs199473172, rs794728912 View all (71 more)	RCV004698552 RCV004698553 RCV003394255 RCV003314022 RCV002300646 RCV002077360 RCV002290854 RCV000853392 RCV004698474 RCV005002014 RCV002468437 RCV003322601 RCV001258367 RCV002074453 RCV003147381 RCV000519472 RCV006249843 RCV003225043 RCV006435022 RCV003154317 RCV006434910 RCV000009966 RCV000009967 RCV000009973 RCV000009980 RCV000197520 RCV000009988 RCV000009989 RCV000009996 RCV000009999 RCV006434912 RCV000010006 RCV001258074 RCV000240623 RCV004698489 RCV000987200 RCV006249620 RCV003492862 RCV003492863 RCV003333528 RCV003986005 RCV004574938 RCV004584257 RCV000144031 RCV006435048 RCV002225106 RCV002289588 RCV000521288 RCV001839456 RCV002298705 RCV000678926 RCV000735255 RCV000735252 RCV000790455 RCV000850238 RCV000853198 RCV000678958 RCV006434918 RCV006434921 RCV006434930 RCV001258075 RCV006434936 RCV006434937 RCV006434938 RCV006434939 RCV004795996 RCV003227634 RCV000522231 RCV002288557 RCV006434947 RCV004786342 RCV006434952 RCV006434968 RCV006434971 RCV004786347 RCV006434978 RCV006434987 RCV001262495 RCV004786350 RCV006434993 RCV000144028 RCV000987208 RCV002265957 RCV001248787 RCV001248801 RCV001258076 RCV001258365 RCV001258366
Cardiac arrest	Pathogenic	rs727505158	RCV005054165
Cardiac arrhythmia	Pathogenic; Likely pathogenic	rs1320531023, rs2125914209, rs2125849694, rs2125871836, rs727505158, rs786204839, rs794728924, rs749697698, rs794728879, rs794728865, rs397514450, rs794728912, rs794728849, rs794728843, rs863225273 View all (42 more)	RCV003591863 RCV001842093 RCV003317510 RCV001842211 RCV005401340 RCV003591693 RCV003591712 RCV001842934 RCV004586605 RCV002265668 RCV001842933 RCV005401367 RCV003591705 RCV003591704 RCV005402883 RCV003591624 RCV001841231 RCV003591625 RCV001841234 RCV001841237 RCV003591627 RCV005402797 RCV002222347 RCV001843012 RCV001843024 RCV003236357 RCV003592330 RCV003592339 RCV003592345 RCV003592362 RCV003592364 RCV005403399 RCV001842371 RCV001841395 RCV001841486 RCV001841781 RCV001841492 RCV001841810 RCV001842008 RCV001842017 RCV003987345 RCV001842271 RCV001842314 RCV005402846 RCV005402847 RCV001842341 RCV001842356 RCV005402848 RCV001842405 RCV003591675 RCV003591835 RCV001841101 RCV001843244 RCV001841177 RCV001843273 RCV001841098 RCV001841199
CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE	Pathogenic	rs137854606	RCV000009984
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs2061175467, rs2125840793, rs2125849694, rs2125881256, rs1450434935, rs794728912, rs483353016, rs2125935394, rs2125906068, rs727505158, rs727503411, rs2471907076, rs1553699238, rs2471600433, rs2471649491 View all (95 more)	RCV002329399 RCV002322367 RCV003298921 RCV004656632 RCV002329758 RCV002458729 RCV002371953 RCV004042778 RCV004038816 RCV003298171 RCV005722094 RCV002323326 RCV002326634 RCV002346753 RCV002445788 RCV002330253 RCV002340566 RCV002338021 RCV002369418 RCV002374128 RCV002396718 RCV002405988 RCV002455675 RCV002443605 RCV002441373 RCV002435563 RCV000241713 RCV003294604 RCV000242251 RCV002336464 RCV002336463 RCV002326987 RCV003311104 RCV006342159 RCV002321726 RCV003298237 RCV003165395 RCV002433811 RCV000621392 RCV005404353 RCV002362939 RCV005732065 RCV000619916 RCV002327048 RCV005404395 RCV002338764 RCV003177664 RCV000246905 RCV002354154 RCV004018609 RCV000622049 RCV002345237 RCV004984637 RCV000245905 RCV000246596 RCV002426498 RCV002326672 RCV000617238 RCV000253171 RCV000250943 RCV000250841 RCV003311107 RCV003311111 RCV003342024 RCV005406044 RCV004369380 RCV004985492 RCV004525057 RCV004022598 RCV002374759 RCV002348296 RCV002436529 RCV002329182 RCV004984946 RCV000618683 RCV005403729 RCV005480410 RCV002456294 RCV005470471 RCV000617180 RCV000618308 RCV000620538 RCV000617233 RCV000618988 RCV000619655 RCV000620736 RCV005400732 RCV002343179 RCV005268728 RCV002408568 RCV002444519 RCV000617435 RCV005400700 RCV000621361 RCV000244833 RCV000587580 RCV000620361 RCV000621112 RCV004019042 RCV002426619 RCV000617872 RCV000617193 RCV000622117 RCV005268550 RCV004019048 RCV000252945 RCV000589022 RCV002371902 RCV002336210 RCV002336213 RCV002336217 RCV000620629 RCV000620248 RCV002444522 RCV003346286
Cervical cancer	Likely pathogenic	rs1057524447	RCV005898137
Conduction system disorder	Pathogenic; Likely pathogenic	rs137854606, rs137854612, rs199473072	RCV000058427 RCV000009997 RCV000148865
Congenital long QT syndrome	Likely pathogenic; Pathogenic	rs786204839, rs749697698, rs397514251, rs794728879, rs794728914, rs794728846, rs28937316, rs28937317, rs137854614, rs137854600, rs137854601, rs137854611, rs137854612, rs2471649600, rs45546039 View all (15 more)	RCV001194086 RCV004804805 RCV004804804 RCV000826183 RCV003996818 RCV000604031 RCV000058726 RCV000058618 RCV000058778 RCV000058716 RCV000058773 RCV003996084 RCV003996085 RCV004013950 RCV000058833 RCV000058389 RCV000058405 RCV000058406 RCV000058408 RCV000058508 RCV000058585 RCV000058619 RCV000058621 RCV000058622 RCV000058667 RCV000058673 RCV000058686 RCV000058717 RCV000058760 RCV000058766 RCV000058774 RCV000058776 RCV000058835
Dilated cardiomyopathy 1E	Likely pathogenic; Pathogenic	rs794728879, rs397514450, rs137854618, rs137854607, rs45546039, rs199473565, rs199473161, rs199473584, rs199473175, rs199473556, rs199473062	RCV002221508 RCV000010008 RCV000010003 RCV000010009 RCV000032639 RCV006257265 RCV001262605 RCV006257266 RCV004795996 RCV004764901 RCV005428999
Familial isolated arrhythmogenic right ventricular dysplasia	Pathogenic	rs137854613, rs1060499940	RCV000465149 RCV000458183
Familial sick sinus syndrome	Likely pathogenic	rs2125906068	RCV003772424
HEART BLOCK, NONPROGRESSIVE	Pathogenic	rs397514448	RCV000009976
Left ventricular noncompaction cardiomyopathy	Likely pathogenic	rs869025523	RCV000208394
Long QT syndrome	Likely pathogenic; Pathogenic	rs749697698, rs397514251, rs28937316, rs28937317, rs72549410, rs199473225, rs199473062	RCV000208172 RCV003318368 RCV002307360 RCV005417427 RCV000157478 RCV001255563 RCV005428999
Long QT syndrome 1	Likely pathogenic; Pathogenic	rs137854601, rs1553698563	RCV000588022 RCV000586276
Long QT syndrome 3	Likely pathogenic; Pathogenic	rs374557801, rs786204839, rs749697698, rs397514251, rs1553694247, rs794728879, rs794728849, rs28937316, rs28937317, rs137854613, rs137854614, rs137854600, rs137854601, rs397514449, rs137854604 View all (24 more)	RCV004785277 RCV001542742 RCV000240624 RCV000009962 RCV004786502 RCV002221508 RCV000709764 RCV000009963 RCV000009964 RCV000477950 RCV000009969 RCV000009970 RCV000009972 RCV000009979 RCV004554591 RCV000656563 RCV001258074 RCV003492862 RCV003492863 RCV003887829 RCV003986005 RCV005054198 RCV000515650 RCV000678965 RCV000790457 RCV006257265 RCV004786339 RCV000234790 RCV001258075 RCV004795996 RCV004764901 RCV000709762 RCV001258376 RCV000709763 RCV004786351 RCV000660252 RCV000521042 RCV002265957 RCV001257451 RCV001258076
Long QT syndrome 3/6, digenic	Pathogenic	rs137854600	RCV000009971
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs727504801, rs137854607, rs2061094546, rs2471839050, rs45546039, rs199473161	RCV000156127 RCV000058706 RCV003233328 RCV003233330 RCV000211852 RCV000220629
Primary familial dilated cardiomyopathy	Pathogenic	rs727504801, rs1417036453	RCV000845525 RCV000845417
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs730880210	RCV000157497
Progressive familial heart block, type 1A	Pathogenic; Likely pathogenic	rs397514447, rs137854607, rs199473175, rs199473556	RCV000009975 RCV000009983 RCV004795996 RCV004764901
SCN5A-related disorder	Likely pathogenic; Pathogenic	rs730880210, rs794728917, rs794728843, rs28937316, rs137854613, rs137854601, rs137854607, rs28937318, rs137854618, rs1060501136, rs1417036453, rs199473097, rs199473108, rs199473584, rs199473224, rs199473072 View all (1 more)	RCV004545750 RCV004539709 RCV004545756 RCV004545721 RCV004528097 RCV004545722 RCV004528098 RCV004734509 RCV004532321 RCV004545770 RCV004527681 RCV004545743 RCV004545744 RCV004734619 RCV000509258 RCV004545872
Sick sinus syndrome	Likely pathogenic	rs869025519	RCV000208410
Sick sinus syndrome 1	Likely pathogenic; Pathogenic	rs749697698, rs137854613, rs137854612, rs1553704183, rs199473161, rs199473055, rs199473062	RCV001836637 RCV000009968 RCV000009995 RCV001195957 RCV001197653 RCV004786341 RCV005428999
Sinoatrial node disorder	Pathogenic; Likely pathogenic	rs727505158, rs137854601	RCV005054165 RCV000009974
SUDDEN INFANT DEATH SYNDROME	Likely pathogenic; Pathogenic	rs1450434935, rs199473062, rs199473631	RCV001787415 RCV005428999 RCV001787862
Syncope	Likely pathogenic	rs1057518916	RCV000415454
Ventricular fibrillation	Likely pathogenic; Pathogenic	rs137854604	RCV000058743
Ventricular fibrillation, paroxysmal familial, type 1	Likely pathogenic; Pathogenic	rs137854604	RCV000009981
Ventricular tachycardia	Likely pathogenic	rs1450434935	RCV000852548

Show/Hide Unknown Diseases (37)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acquired long QT syndrome	not provided	rs45589741, rs79299226	RCV000058598 RCV000058784
Acute myeloid leukemia	Likely benign	rs146835990	RCV005916051
Arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs187531872, rs192379242, rs766554531, rs566251672, rs1060501141, rs36210423, rs199473044	RCV000157496 RCV004596101 RCV000208501 RCV000208238 RCV003447685 RCV000852965 RCV000623091
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity	rs786205271	RCV000855502
Autism	Uncertain significance	rs199473124	RCV004698467
AV junctional rhythm	Conflicting classifications of pathogenicity	rs45620037	RCV000148857
Brugada syndrome, lidocaine-induced	Conflicting classifications of pathogenicity; Benign; Likely benign	rs45471994, rs41313031	RCV000148856 RCV000148841
Cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs200285003, rs375989197, rs41313687, rs72549411, rs184934308, rs369704754, rs371686822, rs45489099, rs538707712, rs111422496, rs730880211, rs146848219, rs370588133, rs759584454, rs756474485 View all (51 more)	RCV003486659 RCV003486660 RCV003149873 RCV003486661 RCV003486662 RCV000852964 RCV003486692 RCV003486670 RCV003149959 RCV003486691 RCV003486709 RCV003149961 RCV003150057 RCV003486736 RCV003150058 RCV000201474 RCV000208114 RCV003486771 RCV003486784 RCV003150767 RCV003149566 RCV003149567 RCV003486797 RCV003487110 RCV003487111 RCV003487112 RCV003486829 RCV003150202 RCV003486859 RCV003486860 RCV003486858 RCV000030437 RCV000030439 RCV000030440 RCV003486547 RCV000852961 RCV000030445 RCV003486621 RCV003486622 RCV003486623 RCV003486624 RCV000201502 RCV003149668 RCV003486625 RCV003486626 RCV000852960 RCV003486627 RCV003486923 RCV003150347 RCV003486928 RCV005410916 RCV003150364 RCV003486628 RCV000852550 RCV003486629 RCV003486630 RCV003486631 RCV003486632 RCV003149712 RCV003486633 RCV003486634 RCV003149713 RCV003486635 RCV003486636 RCV003486637 RCV003486638 RCV003149714 RCV003486971
Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance; Conflicting classifications of pathogenicity	rs730880204, rs199473044	RCV000157482 RCV000157474
Conduction disorder of the heart	Conflicting classifications of pathogenicity	rs1575703249, rs199473603	RCV000845322 RCV000993797
Congenital heart disease	Benign; Likely benign	rs41258454	RCV005357165
Death in early adulthood	Conflicting classifications of pathogenicity	rs12720452	RCV000234978
Death in infancy	Conflicting classifications of pathogenicity	rs150264233, rs12720452, rs199473045	RCV000234983 RCV000234973 RCV000234990
Dilated cardiomyopathy 1A	Uncertain significance	rs199473099, rs879123756	RCV001256850 RCV001256849
Dilated Cardiomyopathy, Dominant	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs587781157, rs41313693, rs41313703, rs146848219, rs746291609, rs45592631, rs886058441, rs886058444, rs886058449, rs886058458, rs368048551, rs190416544, rs569552176, rs569249327, rs886058440 View all (22 more)	RCV000261519 RCV000407616 RCV000296850 RCV000308105 RCV000385583 RCV000341745 RCV000345559 RCV000301103 RCV000302571 RCV000363371 RCV000281521 RCV000344189 RCV000297977 RCV000261597 RCV000371525 RCV000295441 RCV000390836 RCV000397479 RCV000314941 RCV000273213 RCV000315917 RCV000298945 RCV000380469 RCV000306884 RCV000268841 RCV000317224 RCV000405463 RCV000290209 RCV000354222 RCV000404406 RCV000293772 RCV000318774 RCV000365894 RCV000355913 RCV000355208 RCV000351997 RCV000403916
Familial pancreatic carcinoma	Benign; Likely benign	rs41312433	RCV005890264
Fetal akinesia deformation sequence 1	Conflicting classifications of pathogenicity	rs786205271	RCV000855502
Hemiplegia	Uncertain significance	rs137854608	RCV000415287
Hypertrophic cardiomyopathy	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs375614054, rs1553696666, rs1805125, rs199473047, rs752476527	RCV000498992 RCV000497615 RCV000852963 RCV003319178 RCV001254760
Left ventricular noncompaction 1	Conflicting classifications of pathogenicity	rs2061011355	RCV001256854
Long QT syndrome 2	Conflicting classifications of pathogenicity	rs41315493	RCV000208349
Long QT syndrome 2/3, digenic	Conflicting classifications of pathogenicity	rs137854619	RCV000010005
Long QT syndrome 3, acquired, susceptibility to	Benign; Likely benign; Conflicting classifications of pathogenicity	rs41261344, rs7626962	RCV000009991 RCV000009992
Long QT syndrome, drug-associated	Conflicting classifications of pathogenicity; Benign; Likely benign	rs12720452, rs45488304	RCV000148853 RCV000148843
Migraine	Uncertain significance	rs137854608	RCV000415287
Ovarian serous cystadenocarcinoma	Likely benign	rs41312429	RCV005905512
Paroxysmal familial ventricular fibrillation	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs587781157, rs41313693, rs41313703, rs146848219, rs746291609, rs45592631, rs886058441, rs886058444, rs886058449, rs886058458, rs368048551, rs190416544, rs569552176, rs569249327, rs886058440 View all (22 more)	RCV000304867 RCV000373129 RCV000300512 RCV000269424 RCV000333482 RCV000390531 RCV000288292 RCV000340997 RCV000318661 RCV000393285 RCV000341087 RCV000383771 RCV000399214 RCV000360356 RCV000384985 RCV000294416 RCV000343451 RCV000302043 RCV000297214 RCV000276854 RCV000312527 RCV000277931 RCV000328458 RCV000345578 RCV000367587 RCV000371895 RCV000387023 RCV000384665 RCV000312127 RCV000346326 RCV000260969 RCV000375608 RCV000308924 RCV000304768 RCV000370680 RCV000287762 RCV000302724
Progressive familial heart block	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs587781157, rs41313693, rs41313703, rs146848219, rs746291609, rs45592631, rs886058441, rs886058444, rs886058449, rs886058458, rs368048551, rs190416544, rs569552176, rs569249327, rs886058440 View all (22 more)	RCV000356313 RCV000376534 RCV000357693 RCV000277355 RCV000278247 RCV000305537 RCV000390515 RCV000400370 RCV000263745 RCV000308587 RCV000388696 RCV000329112 RCV000341100 RCV000320793 RCV000292483 RCV000386304 RCV000286189 RCV000307945 RCV000290282 RCV000363069 RCV000262047 RCV000260094 RCV000271003 RCV000400115 RCV000371178 RCV000285731 RCV000292814 RCV000385639 RCV000313502 RCV000392597 RCV000316312 RCV000376942 RCV000296327 RCV000264753 RCV000380974 RCV000346616 RCV000357766
Pulmonary valve stenosis (rare)	Benign; Likely benign	rs41315493	RCV000157493
Sarcoma	Conflicting classifications of pathogenicity	rs41315489	RCV005897661
See cases	Conflicting classifications of pathogenicity	rs977717858	RCV002252115
Sudden cardiac arrest	Uncertain significance; Conflicting classifications of pathogenicity	rs958480279, rs199473182, rs966323009	RCV001254736 RCV000852549 RCV001254773
Sudden cardiac death	Benign; Likely benign; Conflicting classifications of pathogenicity	rs41313697, rs199473182, rs199473294	RCV000171822 RCV000058539 RCV000171771
Sudden unexplained death	Conflicting classifications of pathogenicity	rs397517953, rs199473624	RCV000584796 RCV000999577
Torsades de pointes	Uncertain significance	rs36210420	RCV000058854
Uterine corpus endometrial carcinoma	Likely benign	rs41313027	RCV005919129
Wolff-Parkinson-White pattern	Uncertain significance; Conflicting classifications of pathogenicity	rs199473576, rs199473119	RCV000656205 RCV000656174

Show/Hide Text Mining Associations (142)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Pain	Associate	19056759
Abnormalities Drug Induced	Associate	36516610
Acidosis	Associate	16453024, 21385947, 25923670, 27281089, 28373245, 34979239
Acute Febrile Encephalopathy	Associate	34649698
Andersen Syndrome	Associate	22064211, 24815523, 26109178
Aphakia congenital primary	Associate	21321465
Arrhythmias Cardiac	Associate	12471205, 14676229, 15316014, 15671429, 16453024, 16632547, 17185997, 17897635, 17993325, 18048769, 18060054, 18362431, 18408010, 18929244, 19302788 View all (82 more)
Arrhythmogenic Right Ventricular Dysplasia	Associate	23178689, 28069705, 35052356, 36469003
Asthma Chronic Obstructive Pulmonary Disease Overlap Syndrome	Associate	23955615, 31484910, 35052356, 37369559
Atherosclerosis	Associate	31422358
Atrial Fibrillation	Associate	15671429, 17185997, 18355654, 18378609, 18452873, 18929244, 19305639, 20062060, 20558140, 21596231, 22117993, 22818067, 22844511, 23463857, 24582607 View all (15 more)
Atrial Fibrillation	Inhibit	20488304, 36586483
Atrial Fibrillation	Stimulate	31610692
Atrial Flutter	Associate	24582607
Atrial Premature Complexes	Associate	22766342, 31506521, 40142204
Atrial Standstill	Associate	16188595, 28159958, 28584071, 34411358
Atrioventricular Block	Associate	16325048, 18848812, 19419784, 20025708, 23840796, 24227891, 24582607, 27681629, 34319147
Autosomal Recessive Primary Microcephaly	Associate	32048431
Bradycardia	Associate	12569159, 16325048, 16980337, 28734073
Brain Neoplasms	Associate	31320627
Breast Neoplasms	Associate	22678159, 26206582, 26718772, 31819138, 34313250, 35488278, 37052249
Brugada Syndrome	Associate	10940383, 11029409, 11123251, 11150514, 11410597, 12084774, 12106943, 12569159, 14967853, 15277732, 15520322, 15849444, 15851320, 15851440, 15863661 View all (179 more)
Brugada Syndrome	Stimulate	29959160
Brugada Syndrome	Inhibit	37226398
Bundle Branch Block	Associate	10940383, 15520322, 34411358
Calcinosis Cutis	Associate	34313250
Cardiac Conduction System Disease	Associate	12598077, 15863661, 16707561, 28159958, 29709101, 39551029
Cardiomyopathies	Associate	18048769, 20458009, 24815523, 26146998, 27554632, 27834932, 28069705, 28359509, 28815794, 29497013, 33213388, 35130036, 35762211, 37385135, 37651922
Cardiomyopathy Dilated	Associate	15671429, 18048769, 20201937, 21167004, 21596231, 22766342, 23349452, 24227891, 24300601, 25624448, 26458567, 27554632, 27586294, 28637969, 28701297 View all (11 more)
Cardiomyopathy Hypertrophic	Associate	27554632, 28916354
Cerebral Infarction	Associate	34446689, 40650005
Channelopathies	Associate	15863661, 22766342, 23692053, 24613995, 24762805, 26036855, 28637969, 29497013, 29544605, 31262209, 31677524, 33712541, 33712547, 33895855, 35093717, 35543671 View all (1 more)
Charcot Marie Tooth Disease Dominant Intermediate B	Associate	34034907
Charcot Marie Tooth disease Type 1C	Associate	24815523
Chest Pain	Associate	30968627
Ciuffo Syndrome	Associate	16707561
Coinfection	Associate	28734073, 32569350
Colorectal Neoplasms	Associate	20651255, 24852501, 26096612, 29122010
Conduct Disorder	Associate	17897635, 24300601, 27381756, 31118417, 33131149
Congenital heart block	Associate	12569159, 23840796, 25010007, 28018021
Coronary Artery Disease	Associate	34446689
COVID 19	Associate	34979239, 35934244
Deafness	Associate	26636822
Death	Associate	16707561, 22678159, 26146998, 28370132, 32421437, 33213816
Death Sudden	Associate	12471205, 15316014, 16707561, 17222736, 18452875, 18752973, 20400777, 21385947, 21859973, 22766342, 24140416, 25010007, 25691538, 26498160, 26846766 View all (13 more)
Death Sudden Cardiac	Associate	19377070, 20400777, 22370247, 22844511, 23347033, 23840796, 23853484, 24332150, 26146998, 26154754, 27012403, 28085969, 29709101, 30968627, 31257342 View all (18 more)
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	12598077
Diabetes Insipidus Neurogenic	Associate	30944319
Diarrhea	Associate	24613995
Disease	Associate	12569159, 15863661, 21596231, 27625342, 28739862, 37385135
Disease Progression	Associate	35052356
Early Onset Glaucoma	Associate	26820605, 34649698, 37216437
Electric Injuries	Associate	33221895, 35052356
Epilepsy	Associate	12569159, 18752973, 28087622, 30118344, 32449611, 33712547, 37995443
Epilepsy Idiopathic Generalized	Associate	18752973
Epileptic Syndromes	Associate	36430924
familial dilated cardiomyopathy	Associate	18048769, 19412328, 21167004, 29782370, 29871609, 34946838
Fetal akinesia syndrome X linked	Associate	31680123
Fetal Diseases	Associate	22064211
Fever	Associate	15890323, 16616735, 19632629, 19648062, 30968627, 34649698, 35934244, 36516610, 36881552
Foramen Ovale Patent	Associate	34446689
Genetic Diseases Inborn	Associate	12598077, 23347033, 26467377, 31371804, 36469003
Gitelman Syndrome	Associate	30305584
Heart Arrest	Associate	22370247, 27566755, 29325976, 33213388, 33213816, 33221895, 33480457, 33946750, 35231055, 36068982, 36435694, 36441561, 36946855, 39491571, 9753711
Heart Block	Associate	16707561, 28018021
Heart Defects Congenital	Associate	25010007
Heart Diseases	Associate	12569159, 14523039, 15671429, 16568155, 16707561, 18048769, 18378609, 18464934, 19719504, 20025708, 20102920, 22064211, 23840796, 24140416, 24300601 View all (27 more)
Heart Failure	Associate	15671429, 21498565, 21859973, 22939879, 24036084, 24815523, 28359509, 28916354, 29871609, 37385135, 40142204
Heart Failure	Stimulate	24703920
Heart Septal Defects Ventricular	Associate	19719504, 35331424
Hereditary bundle branch system defect	Associate	22247482, 30059973
Hydrops Fetalis	Associate	22064211
Hypertension	Associate	31486511
Hypokalemia	Associate	24332150
Hypomagnesemia primary	Associate	12084774, 12417563, 18060054, 23277474
Hypoxia	Inhibit	22939879
Hypoxia	Stimulate	24036084
Hypoxia	Associate	34979239
Incisional Hernia	Associate	32615940
Irritable Bowel Syndrome	Associate	19056759, 24613995, 29167113, 31262209, 34034907
Ischemia	Associate	17675083, 17993325, 19345130, 33414395
Keshan disease	Associate	25177937
Laminopathies	Associate	29759522, 31118417
Leprosy Tuberculoid	Associate	17399644
Long QT Syndrome	Associate	11150514, 11333173, 11410597, 12084774, 12181125, 12736279, 14676229, 15863661, 16254012, 16568155, 17198989, 17222736, 17597962, 17993325, 18052691 View all (90 more)
Long QT Syndrome	Stimulate	33213816
Long QT syndrome type 3	Associate	11150514, 11333173, 11410597, 12181125, 12849668, 15665061, 16022964, 16707561, 16980337, 18060054, 18408010, 18451998, 18662191, 18708744, 18929244 View all (46 more)
Lown Ganong Levine Syndrome	Associate	29709101
Lymphatic Metastasis	Associate	32400862, 35488278
Microvascular Angina	Associate	22766342, 24068186
Mitral Valve Prolapse	Associate	36430924
Muscular Dystrophy Duchenne	Inhibit	35762211
Muscular Dystrophy Duchenne	Associate	36469003
Myocardial Infarction	Associate	17675083, 19345130, 24445991, 28085969, 32330377
Myocardial Ischemia	Associate	24068186, 26146998
Myoclonus	Associate	16980337
Myotonic Dystrophy	Associate	24140416, 24943134
Neoplasm Metastasis	Stimulate	22678159
Neoplasm Metastasis	Associate	31139826, 35488278, 37052249
Neoplasms	Associate	20651255, 26718772, 29122010, 31819138, 32400862, 37052249
Neoplasms	Stimulate	31139826
Neoplastic Syndromes Hereditary	Associate	16980337, 23955615, 26965448
Opioid Induced Constipation	Associate	34034907
Paralysis Hyperkalemic Periodic	Associate	15851320, 18060054, 22064211, 24815523
Paroxysmal ventricular fibrillation	Associate	10940383, 11123251, 19345130, 27381756, 27625342, 29202755, 33221895, 37216437
Perinatal Death	Associate	32421437
Polymorphic catecholergic ventricular tachycardia	Associate	34557911
Post Acute COVID 19 Syndrome	Associate	16254012, 24388587, 27337590, 29071820, 31257342, 31865383, 8996300
Pulmonary Atelectasis	Associate	19706159, 22277643
Seizures	Associate	19863579, 26154754, 29672598, 29983085
Shock	Associate	21048329, 28584071
Short QT Syndrome 1	Associate	22490985
Sick Sinus Syndrome	Associate	16325048, 17897635, 18048769, 18451998, 20539757, 21596231, 23403368, 23955615, 24300601, 24582607, 24762805, 26111534, 26467377, 27381756, 27586294 View all (9 more)
Sick Sinus Syndrome 1 Autosomal Recessive	Associate	14523039, 17897635
Signs and Symptoms Digestive	Associate	18408010, 19038855, 19056759
Sinoatrial Block	Associate	34755423, 39551029
Sinus Arrest Cardiac	Associate	34755423
Sleep Disorders Circadian Rhythm	Associate	12569159, 24300601
Sleep Wake Disorders	Associate	27281089, 28373245
Spastic paraplegia 3 autosomal dominant	Associate	26803770
Squamous Cell Carcinoma of Head and Neck	Associate	31139826, 32400862
ST Elevation Myocardial Infarction	Associate	28085969
Storm Syndrome	Associate	17675083, 17993325, 19345130
Stroke	Associate	40650005
Sudden Infant Death	Associate	11123251, 15851440, 16453024, 18060054, 18452875, 19302788, 19666841, 21385947, 25923670, 28370132, 29544605, 30282806, 37995443
Sudden Unexpected Death in Epilepsy	Associate	18452875, 18752973, 20875080, 28704380, 34843966, 36326683
Sudden unexpected nocturnal death syndrome	Associate	15851440
Syncope	Associate	12471205, 12569159, 17399644, 19648062, 21109022, 22370247, 23347033, 23376825, 26154754, 27566755, 31486511, 34348284, 34755423, 36430924, 37547970, 39491571, 9753711 View all (2 more)
Syndrome	Associate	23376825
Systemic carnitine deficiency	Associate	24667783
Tachycardia	Associate	19419784, 28734073
Tachycardia Atrioventricular Nodal Reentry	Associate	29759522
Tachycardia Supraventricular	Associate	32615940
Tachycardia Ventricular	Associate	17675083, 17897635, 18848812, 19279983, 19632629, 19648062, 21596231, 26109178, 28159958, 28775062, 31506521, 32615940, 37547970, 39551029
Tachypnea	Associate	27281089
Torsades de Pointes	Associate	17993325, 19669871, 22338672, 29983085, 32421437
Trauma Nervous System	Associate	19632629
Turner Syndrome	Associate	23936059
Unconsciousness	Associate	26109178
Ventricular Fibrillation	Associate	12471205, 16616735, 17675083, 17993325, 18599870, 18848812, 19075524, 19345130, 19706159, 21048329, 24445991, 27012403, 27560382, 28085969, 28781330 View all (9 more)
Ventricular Flutter	Associate	28146213
Ventricular Premature Complexes	Associate	22766342, 26109178, 26965448, 29709244

SCN5A (sodium voltage-gated channel alpha subunit 5)