rs36210423

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0.5	likely to be benign
(A;C)	0.5	likely to be benign
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

3

Position

38603887

Gene

SCN5A

is a	snp
is	mentioned by
dbSNP	rs36210423
dbSNP (classic)	rs36210423
ClinGen	rs36210423
ebi	rs36210423
HLI	rs36210423
Exac	rs36210423
Gnomad	rs36210423
Varsome	rs36210423
LitVar	rs36210423
Map	rs36210423
PheGenI	rs36210423
Biobank	rs36210423
1000 genomes	rs36210423
hgdp	rs36210423
ensembl	rs36210423
geneview	rs36210423
scholar	rs36210423
google	rs36210423
pharmgkb	rs36210423
gwascentral	rs36210423
openSNP	rs36210423
23andMe	rs36210423
SNPshot	rs36210423
SNPdbe	rs36210423
MSV3d	rs36210423
GWAS Ctlg	rs36210423

Max Magnitude

0.5

rs36210423 is a variant in the SCN5A gene on chromosome 3. The major allele (on the minus strand) is C; all three possible minor alleles (A,G,T) have apparently been reported as occurring, according to dbSNP. The three minor alleles and their more common protein designations are:

• c.1715C>A, Ala572Asp or A527D
• c.1715C>T, Ala572Val or A572D
• c.1715C>G, Ala572Gly or A572G

Most reports of pathogenicity (or the lack of it) focus on A572D, which was initially reported as a pathogenic (and dominant) mutation potentially leading to a mild form of long QT syndrome.[PMID 12820704]. Subsequent analyses by several groups have tended to conclude that all rs36210423 variants are likely to be benign.[PMID 22378279]

ClinVar
Risk	Rs36210423(A;A) rs36210423(G;G) rs36210423(T;T)
Alt	Rs36210423(A;A) rs36210423(G;G) rs36210423(T;T)
Reference	Rs36210423(C;C)
Significance	Other
Disease	Congenital long QT syndrome not specified Paroxysmal familial ventricular fibrillation 1 Left ventricular noncompaction cardiomyopathy Cardiac arrest Brugada syndrome Cardiovascular phenotype Sick sinus syndrome Long QT syndrome Progressive familial heart block Romano-Ward syndrome Dilated Cardiomyopathy Paroxysmal familial ventricular fibrillation not provided
Variation	info
Gene	SCN5A
CLNDBN	Congenital long QT syndrome not specified Paroxysmal familial ventricular fibrillation 1 Left ventricular noncompaction cardiomyopathy Cardiac arrest Brugada syndrome Cardiovascular phenotype Sick sinus syndrome Long QT syndrome Progressive familial heart block Romano-Ward syndrome Dilated Cardiomyopathy, Dominant Paroxysmal familial ventricular fibrillation not provided
Reversed	1
HGVS	NC_000003.11:g.38645378G>A; NC_000003.11:g.38645378G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058448.3, RCV000455370.1, RCV000058447.3, RCV000143951.2, RCV000151795.3, RCV000157480.1, RCV000157481.1, RCV000230669.3, RCV000244195.1, RCV000264595.1, RCV000268589.1, RCV000326049.1, RCV000356951.1, RCV000360867.1, RCV000382728.1, RCV000438831.1,