rs202147520

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs202147520(C;T)

Make rs202147520(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

47332144

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs202147520
dbSNP (classic)	rs202147520
ClinGen	rs202147520
ebi	rs202147520
HLI	rs202147520
Exac	rs202147520
Gnomad	rs202147520
Varsome	rs202147520
LitVar	rs202147520
Map	rs202147520
PheGenI	rs202147520
Biobank	rs202147520
1000 genomes	rs202147520
hgdp	rs202147520
ensembl	rs202147520
geneview	rs202147520
scholar	rs202147520
google	rs202147520
pharmgkb	rs202147520
gwascentral	rs202147520
openSNP	rs202147520
23andMe	rs202147520
SNPshot	rs202147520
SNPdbe	rs202147520
MSV3d	rs202147520
GWAS Ctlg	rs202147520

Max Magnitude

0

c.3742G>A (p.Gly1248Arg)

Note that in contrast to the ClinVar box shown below, current clinical status of this variant is "uncertain significance".

[PMID 18403758] Shared genetic causes of cardiac hypertrophy in children and adults.

[PMID 23299917] New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

ClinVar
Risk	rs202147520(T;T)
Alt	rs202147520(T;T)
Reference	Rs202147520(C;C)
Significance	Pathogenic
Disease	not specified Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	not specified Primary familial hypertrophic cardiomyopathy
Reversed	0
HGVS	NC_000011.9:g.47353695C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000035614.3, RCV000148669.1,