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rs121964852

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 Nemaline Myopathy 1
(A;G) 2 Nemaline Myopathy 1
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position154172971
GeneTPM3
is asnp
is mentioned by
dbSNPrs121964852
ebirs121964852
HLIrs121964852
Exacrs121964852
Varsomers121964852
Maprs121964852
PheGenIrs121964852
hapmaprs121964852
1000 genomesrs121964852
hgdprs121964852
ensemblrs121964852
gopubmedrs121964852
geneviewrs121964852
scholarrs121964852
googlers121964852
pharmgkbrs121964852
gwascentralrs121964852
openSNPrs121964852
23andMers121964852
23andMe allrs121964852
SNP Nexus

SNPshotrs121964852
SNPdbers121964852
MSV3drs121964852
GWAS Ctlgrs121964852
Max Magnitude4
OMIM191030
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121964852(A;A)
Alt rs121964852(A;A)
Reference rs121964852(G;G)
Significance Pathogenic
Disease Nemaline myopathy 1 Congenital myopathy with fiber type disproportion Cap myopathy 1 not provided
Variation info
Gene TPM3
CLNDBN Nemaline myopathy 1 Congenital myopathy with fiber type disproportion Cap myopathy 1 not provided
Reversed 1
HGVS NC_000001.10:g.154145447C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013263.27, RCV000013264.25, RCV000054415.18, RCV000128701.1,


[PMID 12467750] De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.


[PMID 17376686] A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.


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


[PMID 19553118] A TPM3 mutation causing cap myopathy.


[PMID 19953533OA-icon.png] Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.


[PMID 20951040] Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.