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rs137853306

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853306(A;A)
Make rs137853306(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position35689265
GeneTPM2
is asnp
is mentioned by
dbSNPrs137853306
ebirs137853306
HLIrs137853306
Exacrs137853306
Varsomers137853306
Maprs137853306
PheGenIrs137853306
hapmaprs137853306
1000 genomesrs137853306
hgdprs137853306
ensemblrs137853306
gopubmedrs137853306
geneviewrs137853306
scholarrs137853306
googlers137853306
pharmgkbrs137853306
gwascentralrs137853306
openSNPrs137853306
23andMers137853306
23andMe allrs137853306
SNP Nexus

SNPshotrs137853306
SNPdbers137853306
MSV3drs137853306
GWAS Ctlgrs137853306
Max Magnitude0
Nemaline myopathy; NEM4

OMIM 190990.0005

OMIM190990
Desc
Variant0005
Relatedalso
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
CLNACC RCV000013280.24, 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.