rs28937317

Orientation

minus

Stabilized

minus

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

Make rs28937317(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

38560418

Gene

SCN5A

is a	snp
is	mentioned by
dbSNP	rs28937317
dbSNP (classic)	rs28937317
ClinGen	rs28937317
ebi	rs28937317
HLI	rs28937317
Exac	rs28937317
Gnomad	rs28937317
Varsome	rs28937317
LitVar	rs28937317
Map	rs28937317
PheGenI	rs28937317
Biobank	rs28937317
1000 genomes	rs28937317
hgdp	rs28937317
ensembl	rs28937317
geneview	rs28937317
scholar	rs28937317
google	rs28937317
pharmgkb	rs28937317
gwascentral	rs28937317
openSNP	rs28937317
23andMe	rs28937317
SNPshot	rs28937317
SNPdbe	rs28937317
MSV3d	rs28937317
GWAS Ctlg	rs28937317

Max Magnitude

5

OMIM	600163
Desc	LONG QT SYNDROME 3
Variant	0003
Related	also

ClinVar
Risk	rs28937317(G;G)
Alt	rs28937317(G;G)
Reference	Rs28937317(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.38601909T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009964.5, RCV000058618.3,

[PMID 8541846] Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.

[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

[PMID 14736542] Mechanisms by which SCN5A mutation N1325S causes cardiac arrhythmias and sudden death in vivo.

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

[PMID 17905336] Long QT and Brugada syndrome gene mutations in New Zealand.