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rs137854600

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854600(A;A)
Make rs137854600(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38551504
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854600
ebirs137854600
HLIrs137854600
Exacrs137854600
Varsomers137854600
Maprs137854600
PheGenIrs137854600
hapmaprs137854600
1000 genomesrs137854600
hgdprs137854600
ensemblrs137854600
gopubmedrs137854600
geneviewrs137854600
scholarrs137854600
googlers137854600
pharmgkbrs137854600
gwascentralrs137854600
openSNPrs137854600
23andMers137854600
23andMe allrs137854600
SNP Nexus

SNPshotrs137854600
SNPdbers137854600
MSV3drs137854600
GWAS Ctlgrs137854600
Max Magnitude0
OMIM600163
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137854600(A,T;A,T)
Alt rs137854600(A,T;A,T)
Reference rs137854600(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long qt syndrome 3 Long qt syndrome 3/6
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Long qt syndrome 3 Long qt syndrome 3/6, digenic
Reversed 1
HGVS NC_000003.11:g.38592995C>A; NC_000003.11:g.38592995C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000058717.2, RCV000009970.4, RCV000009971.2, RCV000058716.2,


[PMID 1505163] The creatine kinase system in the serum of runners following a doubling of training mileage.


[PMID 9495298] Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel.


[PMID 9506831] A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.


[PMID 10200053] A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online.


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


[PMID 12574983] Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene.


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


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