{{Rsnum
|rsid=118203885
|Chromosome=MT
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GTF2IRD1
|position=583
|Assembly=GRCh37.p10
|GenomeBuild=37.5
|dbSNPBuild=138
}}{{ClinVar
|ALT=A
|CHROM=MT
|CLNACC=RCV000010186.1
|CLNALLE=1
|CLNDBN=Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1224:NBK1233:C0162671:540000:550:39925003
|CLNHGVS=NC_012920.1:m.583G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=590070.0001
|Disease=Juvenile myopathy
|FwdALT=A
|FwdREF=G
|REF=G
|RSPOS=583
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=132
|rsid=118203885
}}