rs199476315

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6	Familial hypertrophic cardiomyopathy (possible)
(G;G)	0	common in clinvar

Make rs199476315(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

63061723

Gene

TPM1

is a	snp
is	mentioned by
dbSNP	rs199476315
dbSNP (classic)	rs199476315
ClinGen	rs199476315
ebi	rs199476315
HLI	rs199476315
Exac	rs199476315
Gnomad	rs199476315
Varsome	rs199476315
LitVar	rs199476315
Map	rs199476315
PheGenI	rs199476315
Biobank	rs199476315
1000 genomes	rs199476315
hgdp	rs199476315
ensembl	rs199476315
geneview	rs199476315
scholar	rs199476315
google	rs199476315
pharmgkb	rs199476315
gwascentral	rs199476315
openSNP	rs199476315
23andMe	rs199476315
SNPshot	rs199476315
SNPdbe	rs199476315
MSV3d	rs199476315
GWAS Ctlg	rs199476315

Max Magnitude

6

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

ClinVar
Risk	rs199476315(A;A)
Alt	rs199476315(A;A)
Reference	Rs199476315(G;G)
Significance	Other
Disease	not provided Left ventricular noncompaction 9 Primary familial hypertrophic cardiomyopathy not specified
Variation	info
Gene	TPM1
CLNDBN	not provided Left ventricular noncompaction 9 Primary familial hypertrophic cardiomyopathy not specified
Reversed	0
HGVS	NC_000015.9:g.63353922G>A
CLNSRC	Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024578.4, RCV000054795.24, RCV000208146.1, RCV000223758.1,

[PMID 12858563] Molecular epidemiology of hypertrophic cardiomyopathy.

[PMID 21551322] Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.