{{Rsnum
|rsid=199474818
|Chromosome=MT
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COX1
|position=7445
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=MT-ATP6
}}{{ClinVar
|ALT=C,G
|CHROM=MT
|CLNACC=RCV000010181.1; RCV000010176.1; RCV000010177.1
|CLNALLE=1; 2
|CLNDBN=Deafness, nonsyndromic sensorineural, mitochondrial; Keratoderma palmoplantar deafness
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1422:NBK1434:C3151897:500008:90641; C1835672:148350:2202
|CLNHGVS=NC_012920.1:m.7445A>C; NC_012920.1:m.7445A>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=590080.0007; 590080.0002
|Disease=Deafness; Keratoderma palmoplantar deafness
|FwdALT=C,G
|FwdREF=A
|REF=A
|RSPOS=7445
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=199474818
}}