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rs121913626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 6 familial hypertrophic cardiomyopathy mutation
(G;G) 0 common in clinvar


Make rs121913626(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position23427723
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913626
ebirs121913626
HLIrs121913626
Exacrs121913626
Varsomers121913626
Maprs121913626
PheGenIrs121913626
hapmaprs121913626
1000 genomesrs121913626
hgdprs121913626
ensemblrs121913626
gopubmedrs121913626
geneviewrs121913626
scholarrs121913626
googlers121913626
pharmgkbrs121913626
gwascentralrs121913626
openSNPrs121913626
23andMers121913626
23andMe allrs121913626
SNP Nexus

SNPshotrs121913626
SNPdbers121913626
MSV3drs121913626
GWAS Ctlgrs121913626
Max Magnitude6

rs121913626, also known as c.1750G>C and p.Gly584Arg, is a mutation in the MYH7 gene considered to be an autosomal dominant leading to familial hypertrophic cardiomyopathy, according to multiple sources in ClinVar.

This mutation was the fourth most common pathogenic variant seen in 2,912 unrelated individuals with nonsyndromic hypertrophic cardiomyopathy (HCM) presentations over a 10 year period (2004-2014) at the Partners Healthcare Personalized Medicine clinic in Boston.[PMID 25611685]

Note: 23andMe refers to this SNP as i6015303.

OMIM160760
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913626(A,C;A,C)
Alt rs121913626(A,C;A,C)
Reference rs121913626(G;G)
Significance Other
Disease Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy Cardiomyopathy not provided not specified Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy Cardiomyopathy not provided not specified Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23896932C>G; NC_000014.8:g.23896932C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015146.23, RCV000035744.3, RCV000158816.1, RCV000223743.1, RCV000035743.3, RCV000229519.1,