{{Rsnum
|rsid=104894557
|Chromosome=17
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=COX10
|position=14206888
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=COX10
}}{{omim
|id=602125
|rsnum=104894557
|variant=0004
}}
{{omim
|id=602125
|rsnum=104894557
|variant=0005
}}{{ClinVar
|rsid=104894557
|Reversed=0
|FwdREF=A
|FwdALT=G,T
|REF=A
|ALT=G,T
|RSPOS=14110205
|CHROM=17
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=COX10:1352
|GENE_NAME=COX10
|GENE_ID=1352
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000017.10:g.14110205A>G; NC_000017.10:g.14110205A>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=602125.0005; 602125.0004
|CLNSIG=5
|CLNCUI=C1850599
|CLNDBN=Congenital myasthenic syndrome, acetazolamide-responsive
|Disease=Congenital myasthenic syndrome
|CLNACC=RCV000007961.1; RCV000007960.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1850599:614198:590
}}