rs137853306

Orientation

minus

Stabilized

minus

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

Make rs137853306(A;A)

Make rs137853306(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

35689265

Gene

TPM2

is a	snp
is	mentioned by
dbSNP	rs137853306
dbSNP (classic)	rs137853306
ClinGen	rs137853306
ebi	rs137853306
HLI	rs137853306
Exac	rs137853306
Gnomad	rs137853306
Varsome	rs137853306
LitVar	rs137853306
Map	rs137853306
PheGenI	rs137853306
Biobank	rs137853306
1000 genomes	rs137853306
hgdp	rs137853306
ensembl	rs137853306
geneview	rs137853306
scholar	rs137853306
google	rs137853306
pharmgkb	rs137853306
gwascentral	rs137853306
openSNP	rs137853306
23andMe	rs137853306
SNPshot	rs137853306
SNPdbe	rs137853306
MSV3d	rs137853306
GWAS Ctlg	rs137853306

Max Magnitude

0

Nemaline myopathy; NEM4

OMIM 190990.0005

OMIM	190990
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137853306(A;A)
Alt	rs137853306(A;A)
Reference	Rs137853306(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 4 not provided
Variation	info
Gene	TPM2
CLNDBN	Nemaline myopathy 4 not provided
Reversed	1
HGVS	NC_000009.11:g.35689262C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013280.25, RCV000128672.1,

[PMID 17846275] Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).

[PMID 18422639] Beta-tropomyosin mutations alter tropomyosin isoform composition.