{{Rsnum
|rsid=199474819
|Chromosome=MT
|Orientation=plus
|geno1=(AA;AA)
|geno2=(AA;C)
|geno3=(C;C)
|Gene=ACTR6
|position=7472
|Assembly=GRCh37.p10
|GenomeBuild=37.5
|dbSNPBuild=138
}}{{ClinVar
|ALT=AC
|CHROM=MT
|CLNACC=RCV000010178.1; RCV000022905.1; RCV000022906.3
|CLNALLE=1
|CLNDBN=Mitochondrial cytochrome c oxidase deficiency; DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES; Deafness, nonsyndromic sensorineural, mitochondrial
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1422:NBK1434:C3151897:500008:90641
|CLNHGVS=NC_012920.1:m.7472_7473insC
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=590080.0003
|Disease=Mitochondrial cytochrome c oxidase deficiency; DEAFNESS; Deafness
|FwdALT=C
|FwdREF=A
|REF=A
|RSPOS=7472
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050060000000000002110200
|WGT=0
|dbSNPBuildID=138
|rsid=199474819
}}