{{Rsnum
|rsid=80356544
|Chromosome=10
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=C10orf2
|position=100989770
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=C10orf2
}}{{omim
|id=606075
|rsnum=80356544
|variant=0011
}}{{ClinVar
|rsid=80356544
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=102749527
|CHROM=10
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=C10orf2:56652
|GENE_NAME=C10orf2
|GENE_ID=56652
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.102749527C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK3795; 606075.0011
|CLNSIG=5
|CLNCUI=CN031991
|CLNDBN=Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Mitochondrial DNA-depletion syndrome 3, hepatocerebral
|Disease=Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Mitochondrial DNA-depletion syndrome 3
|CLNACC=RCV000004889.1; RCV000020864.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK3795:C1849096:271245:1186; NBK3795:NBK7040:C3151513:251880:279934
}}{{PMID Auto
|PMID=17722119
|Title=Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
}}