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rs375882485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 7 familial hypertrophic cardiomyopathy mutation
(G;G) 0 common in clinvar


Make rs375882485(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position47342698
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs375882485
ebirs375882485
HLIrs375882485
Exacrs375882485
Varsomers375882485
Maprs375882485
PheGenIrs375882485
hapmaprs375882485
1000 genomesrs375882485
hgdprs375882485
ensemblrs375882485
gopubmedrs375882485
geneviewrs375882485
scholarrs375882485
googlers375882485
pharmgkbrs375882485
gwascentralrs375882485
openSNPrs375882485
23andMers375882485
23andMe allrs375882485
SNP Nexus

SNPshotrs375882485
SNPdbers375882485
MSV3drs375882485
GWAS Ctlgrs375882485
Max Magnitude7

rs375882485, also known as c.1504C>T and p.Arg502Trp, is a mutation in the MYBPC3 gene considered to be an autosomal dominant leading to familial hypertrophic cardiomyopathy, type 4, according to multiple sources in ClinVar.

This mutation is notable for being the 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 i5046172.

ClinVar
Risk rs375882485(A;A)
Alt rs375882485(A;A)
Reference rs375882485(G;G)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Cardiomyopathy Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy not provided
Variation info
Gene MYBPC3
CLNDBN Primary familial hypertrophic cardiomyopathy Cardiomyopathy Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy not provided
Reversed 0
HGVS NC_000011.9:g.47364249G>A
CLNSRC ClinVar University of Washington
CLNACC RCV000035406.3, RCV000158096.1, RCV000161122.3, RCV000203913.2, RCV000223898.1,