Have questions? Visit https://www.reddit.com/r/SNPedia

rs199473282

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473282(A;A)
Make rs199473282(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position38551513
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473282
ebirs199473282
HLIrs199473282
Exacrs199473282
Varsomers199473282
Maprs199473282
PheGenIrs199473282
hapmaprs199473282
1000 genomesrs199473282
hgdprs199473282
ensemblrs199473282
gopubmedrs199473282
geneviewrs199473282
scholarrs199473282
googlers199473282
pharmgkbrs199473282
gwascentralrs199473282
openSNPrs199473282
23andMers199473282
23andMe allrs199473282
SNP Nexus

SNPshotrs199473282
SNPdbers199473282
MSV3drs199473282
GWAS Ctlgrs199473282
Max Magnitude0
ClinVar
Risk rs199473282(A,T;A,T)
Alt rs199473282(A,T;A,T)
Reference rs199473282(C;C)
Significance Pathogenic
Disease Brugada syndrome 1 Brugada syndrome Cardiac conduction defect
Variation info
Gene SCN5A
CLNDBN Brugada syndrome 1 Brugada syndrome Cardiac conduction defect, nonspecific
Reversed 1
HGVS NC_000003.11:g.38593004G>A; NC_000003.11:g.38593004G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009965.3, RCV000058715.2, RCV000144031.2, RCV000058714.2,


[PMID 18065446] Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel.


[PMID 21552533OA-icon.png] Alternative splicing of the cardiac sodium channel creates multiple variants of mutant T1620K channels.


[PMID 9521325] Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.


[PMID 20129283OA-icon.png] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.