rs199476153

Orientation

minus

Stabilized

minus

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

Make rs199476153(-;-)

Make rs199476153(-;GAG)

Reference

GRCh38 38.1/141

Chromosome

9

Position

35685509

Gene

TPM2

is a	snp
is	mentioned by
dbSNP	rs199476153
dbSNP (classic)	rs199476153
ClinGen	rs199476153
ebi	rs199476153
HLI	rs199476153
Exac	rs199476153
Gnomad	rs199476153
Varsome	rs199476153
LitVar	rs199476153
Map	rs199476153
PheGenI	rs199476153
Biobank	rs199476153
1000 genomes	rs199476153
hgdp	rs199476153
ensembl	rs199476153
geneview	rs199476153
scholar	rs199476153
google	rs199476153
pharmgkb	rs199476153
gwascentral	rs199476153
openSNP	rs199476153
23andMe	rs199476153
SNPshot	rs199476153
SNPdbe	rs199476153
MSV3d	rs199476153
GWAS Ctlg	rs199476153

Max Magnitude

0

ClinVar
Risk	rs199476153(-;-)
Alt	rs199476153(-;-)
Reference	Rs199476153(GAG;GAG)
Significance	Pathogenic
Disease	Cap myopathy 2 not provided
Variation	info
Gene	TPM2
CLNDBN	Cap myopathy 2 not provided
Reversed	1
HGVS	NC_000009.11:g.35685506_35685508delCTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013281.26, RCV000128684.1,

[PMID 17434307] Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.

[PMID 19345583] Cap disease due to mutation of the beta-tropomyosin gene (TPM2).