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rs137854612

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854612(A;A)
Make rs137854612(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38560170
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854612
ebirs137854612
HLIrs137854612
Exacrs137854612
Varsomers137854612
Maprs137854612
PheGenIrs137854612
hapmaprs137854612
1000 genomesrs137854612
hgdprs137854612
ensemblrs137854612
gopubmedrs137854612
geneviewrs137854612
scholarrs137854612
googlers137854612
pharmgkbrs137854612
gwascentralrs137854612
openSNPrs137854612
23andMers137854612
23andMe allrs137854612
SNP Nexus

SNPshotrs137854612
SNPdbers137854612
MSV3drs137854612
GWAS Ctlgrs137854612
Merged fromRs28936971
Max Magnitude0
OMIM600163
Desc
Variant0026
Relatedalso
ClinVar
Risk rs137854612(A;A)
Alt rs137854612(A;A)
Reference rs137854612(G;G)
Significance Pathogenic
Disease Sick sinus syndrome 1 Brugada syndrome 1 Cardiac conduction defect Brugada syndrome not provided
Variation info
Gene SCN5A
CLNDBN Sick sinus syndrome 1, autosomal recessive Brugada syndrome 1 Cardiac conduction defect, nonspecific Brugada syndrome not provided
Reversed 1
HGVS NC_000003.11:g.38601661C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009995.2, RCV000009996.2, RCV000009997.2, RCV000058649.2, RCV000183190.1,


[PMID 11748104] Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family.


[PMID 14523039OA-icon.png] Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).


[PMID 19251209] Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.


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


[PMID 20539757OA-icon.png] Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.