{{Rsnum
|rsid=121964854
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|geno4=(C;T)
|geno5=(T;T)
|Gene=TPM3
|position=154172972
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TPM3
}}{{omim
|id=191030
|rsnum=121964854
|variant=0008
}}{{ClinVar
|rsid=121964854
|Reversed=1
|FwdREF=C
|FwdALT=G,T
|REF=G
|ALT=A,C
|RSPOS=154172972
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000a05000002110100
|GENEINFO=TPM3:7170
|GENE_NAME=TPM3
|GENE_ID=7170
|WGT=1
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000001.11:g.154172972G>A; NC_000001.11:g.154172972G>C
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001043353.1:c.391C>T; NR_103461.1:n.521C>T; NBK1259; 191030.0009; NM_001043353.1:c.391C>G; NR_103461.1:n.521C>G; 191030.0008
|CLNSIG=5
|CLNCUI=C0546264
|CLNDBN=Congenital myopathy with fiber type disproportion; Cap myopathy 1
|Disease=Congenital myopathy with fiber type disproportion; Cap myopathy 1
|CLNACC=RCV000013269.25; RCV000054416.15; RCV000013268.16
|Tags=RV;PM;PMC;S3D;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1259:C0546264:255310:ORPHA2020:240084007; CN178536
}}{{PMID Auto
|PMID=18300303
|Title=Mutations in TPM3 are a common cause of congenital fiber type disproportion.
}}

{{PMID Auto
|PMID=19487656
|Title=TPM3 mutation in one of the original cases of cap disease.
}}

{{PMID Auto
|PMID=20179953
|Title=Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.
}}

{{PMID Auto
|PMID=20554445
|Title=Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.
}}