rs375882485

plus

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

Make rs375882485(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47342698

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs375882485
dbSNP (classic)	rs375882485
ClinGen	rs375882485
ebi	rs375882485
HLI	rs375882485
Exac	rs375882485
Gnomad	rs375882485
Varsome	rs375882485
LitVar	rs375882485
Map	rs375882485
PheGenI	rs375882485
Biobank	rs375882485
1000 genomes	rs375882485
hgdp	rs375882485
ensembl	rs375882485
geneview	rs375882485
scholar	rs375882485
google	rs375882485
pharmgkb	rs375882485
gwascentral	rs375882485
openSNP	rs375882485
23andMe	rs375882485
SNPshot	rs375882485
SNPdbe	rs375882485
MSV3d	rs375882485
GWAS Ctlg	rs375882485

Max Magnitude

7

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 Hypertrophic cardiomyopathy not provided Cardiovascular phenotype Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy not provided Cardiovascular phenotype Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant
Reversed	0
HGVS	NC_000011.9:g.47364249G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000035406.4, RCV000203913.4, RCV000223898.3, RCV000252398.1, RCV000351173.1, RCV000403323.1,