Have questions? Visit https://www.reddit.com/r/SNPedia

rs113605263

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113605263(C;G)
Make rs113605263(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position154167941
GeneTPM3
is asnp
is mentioned by
dbSNPrs113605263
ebirs113605263
HLIrs113605263
Exacrs113605263
Varsomers113605263
Maprs113605263
PheGenIrs113605263
hapmaprs113605263
1000 genomesrs113605263
hgdprs113605263
ensemblrs113605263
gopubmedrs113605263
geneviewrs113605263
scholarrs113605263
googlers113605263
pharmgkbrs113605263
gwascentralrs113605263
openSNPrs113605263
23andMers113605263
23andMe allrs113605263
SNP Nexus

SNPshotrs113605263
SNPdbers113605263
MSV3drs113605263
GWAS Ctlgrs113605263
Max Magnitude0
OMIM191030
Desc
Variant0003
Relatedalso
ClinVar
Risk rs113605263(A,G,T;A,G,T)
Alt rs113605263(A,G,T;A,G,T)
Reference rs113605263(C;C)
Significance Pathogenic
Disease Nemaline myopathy 1 not provided
Variation info
Gene TPM3
CLNDBN Nemaline myopathy 1 not provided
Reversed 0
HGVS NC_000001.10:g.154140417C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013261.26, RCV000128706.1,


[PMID 12196661] Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.