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rs121964854

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 2 Nemaline Myopathy 1
(C;T) 2 Nemaline Myopathy 1
(G;G) 4 Nemaline Myopathy 1
(T;T) 4 Nemaline Myopathy 1
ReferenceGRCh38 38.1/141
Chromosome1
Position154172972
GeneTPM3
is asnp
is mentioned by
dbSNPrs121964854
ebirs121964854
HLIrs121964854
Exacrs121964854
Varsomers121964854
Maprs121964854
PheGenIrs121964854
hapmaprs121964854
1000 genomesrs121964854
hgdprs121964854
ensemblrs121964854
gopubmedrs121964854
geneviewrs121964854
scholarrs121964854
googlers121964854
pharmgkbrs121964854
gwascentralrs121964854
openSNPrs121964854
23andMers121964854
23andMe allrs121964854
SNP Nexus

SNPshotrs121964854
SNPdbers121964854
MSV3drs121964854
GWAS Ctlgrs121964854
Max Magnitude4
OMIM191030
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121964854(G,T;G,T)
Alt rs121964854(G,T;G,T)
Reference rs121964854(C;C)
Significance Pathogenic
Disease Congenital myopathy with fiber type disproportion Cap myopathy 1 not provided Nemaline myopathy 1
Variation info
Gene TPM3
CLNDBN Congenital myopathy with fiber type disproportion Cap myopathy 1 not provided Nemaline myopathy 1
Reversed 1
HGVS NC_000001.10:g.154145448G>A; NC_000001.10:g.154145448G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013269.29, RCV000054416.19, RCV000128700.1, RCV000013268.19, RCV000128699.1, RCV000226212.1,


[PMID 18300303] Mutations in TPM3 are a common cause of congenital fiber type disproportion.


[PMID 19487656] TPM3 mutation in one of the original cases of cap disease.


[PMID 20179953] Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.


[PMID 20554445] Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.