{{Rsnum
|rsid=121909531
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ACTA1
|position=229431633
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ACTA1
}}{{omim
|id=102610
|rsnum=121909531
|variant=0013
}}{{ClinVar
|rsid=121909531
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=229431633
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000a05000002110100
|GENEINFO=ACTA1:58
|GENE_NAME=ACTA1
|GENE_ID=58
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.229431633G>A
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001100.3:c.1000C>T; NBK1259; 102610.0013
|CLNSIG=5
|CLNCUI=C0546264
|CLNDBN=Congenital myopathy with fiber type disproportion
|Disease=Congenital myopathy with fiber type disproportion
|CLNACC=RCV000019953.27
|Tags=RV;PM;PMC;S3D;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1259:C0546264:255310:ORPHA2020:240084007
}}{{PMID Auto
|PMID=15468086
|Title=Actin mutations are one cause of congenital fibre type disproportion.
}}