{{Rsnum
|rsid=80358247
|Chromosome=1
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=TPM3
|position=154191993
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TPM3
}}{{omim
|id=191030
|rsnum=80358247
|variant=0001
}}{{ClinVar
|rsid=80358247
|Reversed=1
|FwdREF=T
|FwdALT=G
|REF=A
|ALT=C
|RSPOS=154191993
|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.154191993A>C
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_152263.3:c.26T>G; NR_103460.1:n.75T>G; NBK1288; 191030.0001
|CLNSIG=5
|CLNCUI=C1836448; C1836448
|CLNDBN=Nemaline myopathy 1
|Disease=Nemaline myopathy 1
|CLNACC=RCV000013259.16
|Tags=RV;PM;PMC;S3D;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1259:NBK1288:C1836448:609284:ORPHA171881:ORPHA607
}}{{PMID Auto
|PMID=7663526
|Title=A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1.
}}

{{PMID Auto
|PMID=7704029
|Title=A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.
}}

{{PMID Auto
|PMID=10587521
|Title=A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.
|OA=1
}}

{{PMID Auto
|PMID=15562513
|Title=An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.
}}

{{PMID Auto
|PMID=11106625
|Title=Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.
|OA=1
}}

{{PMID Auto
|PMID=11964245
|Title=Tropomyosin requires an intact N-terminal coiled coil to interact with tropomodulin.
|OA=1
}}

{{PMID Auto
|PMID=12163017
|Title=Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy.
}}

{{PMID Auto
|PMID=18716557
|Title=Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.
|OA=1
}}