{{Rsnum
|rsid=367543048
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=ACTA1
|position=229433100
|Gene_s=ACTA1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=1
|CLNACC=RCV000034934.1
|CLNALLE=1
|CLNDBN=Congenital myopathy with fiber type disproportion
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1259:C0546264:255310:ORPHA2020:240084007
|CLNHGVS=NC_000001.11:g.229433100C>T
|CLNSIG=5
|CLNSRC=ClinVar; GeneReviews
|CLNSRCID=NM_001100.3:c.16G>A; NBK1259
|Disease=Congenital myopathy with fiber type disproportion
|FwdALT=A
|FwdREF=G
|REF=C
|RSPOS=229433100
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000a05000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=367543048
|GENEINFO=ACTA1:58
|GENE_ID=58
|GENE_NAME=ACTA1
|CLNORIGIN=0
}}{{PMID Auto
|PMID=15468086
|Title=Actin mutations are one cause of congenital fibre type disproportion.
}}