rs397516005

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.2	Familial Hypertrophic Cardiomyopathy

Make rs397516005(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47333566

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397516005
dbSNP (classic)	rs397516005
ClinGen	rs397516005
ebi	rs397516005
HLI	rs397516005
Exac	rs397516005
Gnomad	rs397516005
Varsome	rs397516005
LitVar	rs397516005
Map	rs397516005
PheGenI	rs397516005
Biobank	rs397516005
1000 genomes	rs397516005
hgdp	rs397516005
ensembl	rs397516005
geneview	rs397516005
scholar	rs397516005
google	rs397516005
pharmgkb	rs397516005
gwascentral	rs397516005
openSNP	rs397516005
23andMe	rs397516005
SNPshot	rs397516005
SNPdbe	rs397516005
MSV3d	rs397516005
GWAS Ctlg	rs397516005

Max Magnitude

6.2

aka c.3181C>T (p.Gln1061Ter or Q1061X)

This mutation is one of the four most common HCM-associated mutations in Finland.

ClinVar
Risk	rs397516005(T;T)
Alt	rs397516005(T;T)
Reference	Rs397516005(C;C)
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.47355117G>A
CLNSRC	ClinVar
CLNACC	RCV000035563.6, RCV000158219.1,