{{Rsnum
|rsid=104894372
|Chromosome=12
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=PUS1
|position=131941405
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PUS1
}}{{omim
|id=608109
|rsnum=104894372
|variant=0002
}}{{ClinVar
|rsid=104894372
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=132425950
|CHROM=12
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=PUS1:80324
|GENE_NAME=PUS1
|GENE_ID=80324
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.132425950G>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000002646.1
|CLNDBN=Myopathy, lactic acidosis, and sideroblastic anemia 1
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608109.0002
|Disease=Myopathy
}}