rs104894502

Orientation

plus

Stabilized

plus

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

Make rs104894502(A;G)

Make rs104894502(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

63060915

Gene

TPM1

is a	snp
is	mentioned by
dbSNP	rs104894502
dbSNP (classic)	rs104894502
ClinGen	rs104894502
ebi	rs104894502
HLI	rs104894502
Exac	rs104894502
Gnomad	rs104894502
Varsome	rs104894502
LitVar	rs104894502
Map	rs104894502
PheGenI	rs104894502
Biobank	rs104894502
1000 genomes	rs104894502
hgdp	rs104894502
ensembl	rs104894502
geneview	rs104894502
scholar	rs104894502
google	rs104894502
pharmgkb	rs104894502
gwascentral	rs104894502
openSNP	rs104894502
23andMe	rs104894502
SNPshot	rs104894502
SNPdbe	rs104894502
MSV3d	rs104894502
GWAS Ctlg	rs104894502

Merged from

Rs28934269

Max Magnitude

0

see rs28934269, an equivalent SNP

OMIM	191010
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894502(G;G) rs104894502(T;T)
Alt	rs104894502(G;G) rs104894502(T;T)
Reference	Rs104894502(A;A)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 3 not provided
Variation	info
Gene	TPM1
CLNDBN	Familial hypertrophic cardiomyopathy 3 not provided
Reversed	0
HGVS	NC_000015.9:g.63353114A>G; NC_000015.9:g.63353114A>T
CLNSRC	Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013271.24, RCV000159367.1, RCV000024576.1,

[PMID 8205619] Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

[PMID 11603924] A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in mice.

[PMID 11044437] Novel mutation in the alpha-tropomyosin gene and transition from hypertrophic to hypocontractile dilated cardiomyopathy.