rs137854614

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	5	Romano-Ward Long QT Syndrome

Make rs137854614(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

38550988

Gene

SCN5A

is a	snp
is	mentioned by
dbSNP	rs137854614
dbSNP (classic)	rs137854614
ClinGen	rs137854614
ebi	rs137854614
HLI	rs137854614
Exac	rs137854614
Gnomad	rs137854614
Varsome	rs137854614
LitVar	rs137854614
Map	rs137854614
PheGenI	rs137854614
Biobank	rs137854614
1000 genomes	rs137854614
hgdp	rs137854614
ensembl	rs137854614
geneview	rs137854614
scholar	rs137854614
google	rs137854614
pharmgkb	rs137854614
gwascentral	rs137854614
openSNP	rs137854614
23andMe	rs137854614
SNPshot	rs137854614
SNPdbe	rs137854614
MSV3d	rs137854614
GWAS Ctlg	rs137854614

Max Magnitude

5

OMIM	600163
Desc
Variant	0029
Related	also

ClinVar
Risk	rs137854614(G;G)
Alt	rs137854614(G;G)
Reference	Rs137854614(A;A)
Significance	Pathogenic
Disease	Long QT syndrome 3 Congenital long QT syndrome
Variation	info
Gene	SCN5A
CLNDBN	Long QT syndrome 3 Congenital long QT syndrome
Reversed	1
HGVS	NC_000003.11:g.38592479T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009969.3, RCV000058778.3,

[PMID 11410597] Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.

[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

[PMID 19716085 ] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

[PMID 19841300 ] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.