rs397516082

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	6.2	Familial Hypertrophic Cardiomyopathy

Make rs397516082(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47346372

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397516082
dbSNP (classic)	rs397516082
ClinGen	rs397516082
ebi	rs397516082
HLI	rs397516082
Exac	rs397516082
Gnomad	rs397516082
Varsome	rs397516082
LitVar	rs397516082
Map	rs397516082
PheGenI	rs397516082
Biobank	rs397516082
1000 genomes	rs397516082
hgdp	rs397516082
ensembl	rs397516082
geneview	rs397516082
scholar	rs397516082
google	rs397516082
pharmgkb	rs397516082
gwascentral	rs397516082
openSNP	rs397516082
23andMe	rs397516082
SNPshot	rs397516082
SNPdbe	rs397516082
MSV3d	rs397516082
GWAS Ctlg	rs397516082

Max Magnitude

6.2

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].

This mutation is reported to account for ~58% of all HCM cases in Iceland.

ClinVar
Risk	rs397516082(G;G)
Alt	rs397516082(G;G)
Reference	Rs397516082(A;A)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided
Reversed	1
HGVS	NC_000011.9:g.47367923T>C
CLNSRC	ClinVar
CLNACC	RCV000035682.2, RCV000158322.3,