{{Rsnum
|rsid=121964852
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=TPM3
|position=154172971
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TPM3
}}{{omim
|id=191030
|rsnum=121964852
|variant=0005
}}{{ClinVar
|rsid=121964852
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=154172971
|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
|CLNHGVS=NC_000001.11:g.154172971C>T
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001043353.1:c.392G>A; NR_103461.1:n.522G>A; NBK1259; 191030.0005
|CLNSIG=5
|CLNCUI=C1836448; C0546264
|CLNDBN=Nemaline myopathy 1; Congenital myopathy with fiber type disproportion; Cap myopathy 1
|Disease=Nemaline myopathy 1; Congenital myopathy with fiber type disproportion; Cap myopathy 1
|CLNACC=RCV000013263.24; RCV000013264.22; RCV000054415.15
|Tags=RV;PM;PMC;S3D;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1259:NBK1288:C1836448:609284:ORPHA171881:ORPHA607; NBK1259:C0546264:255310:ORPHA2020:240084007; CN178536
}}{{PMID Auto
|PMID=12467750
|Title=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 Auto
|PMID=17376686
|Title=A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.
}}

{{PMID Auto
|PMID=18300303
|Title=Mutations in TPM3 are a common cause of congenital fiber type disproportion.
}}

{{PMID Auto
|PMID=19553118
|Title=A TPM3 mutation causing cap myopathy.
}}

{{PMID Auto
|PMID=19953533
|Title=Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
|OA=1
}}

{{PMID Auto
|PMID=20951040
|Title=Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.
}}