{{Rsnum
|rsid=387906383
|Chromosome=17
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COX10
|position=14069607
|Gene_s=COX10,COX10-AS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=17
|CLNACC=RCV000007962.1
|CLNALLE=1
|CLNDBN=Congenital myasthenic syndrome, acetazolamide-responsive
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1850599:614198:590
|CLNHGVS=NC_000017.10:g.13972924T>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=602125.0006
|Disease=Congenital myasthenic syndrome
|FwdALT=C
|FwdREF=T
|REF=T
|RSPOS=13972924
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD
|VC=SNV
|VP=0x050060000000000002100100
|WGT=0
|dbSNPBuildID=137
|rsid=387906383
|GENEINFO=COX10:1352; COX10-AS1:100874058
|GENE_ID=1352; 100874058
|GENE_NAME=COX10; COX10-AS1
}}