{{Rsnum
|rsid=118203888
|Chromosome=MT
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=DDX58
|position=12258
|Assembly=GRCh37.p10
|GenomeBuild=37.5
|dbSNPBuild=138
}}{{ClinVar
|ALT=A
|CHROM=MT
|CLNACC=RCV000010170.1; RCV000010171.1; RCV000010172.1
|CLNALLE=1
|CLNDBN=Cerebellar ataxia, cataract, and diabetes mellitus; Retinitis pigmentosa-deafness syndrome; Rp21
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C0271097:500004:231183:886:57838006
|CLNHGVS=NC_012920.1:m.12258C>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=590085.0001
|Disease=Cerebellar ataxia; Retinitis pigmentosa-deafness syndrome; Rp21
|FwdALT=A
|FwdREF=C
|REF=C
|RSPOS=12258
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=132
|rsid=118203888
}}