{{Rsnum
|rsid=80356540
|Chromosome=10
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=C10orf2
|position=100990474
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=C10orf2
}}{{omim
|id=606075
|rsnum=80356540
|variant=0012
}}{{ClinVar
|rsid=80356540
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=102750231
|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.102750231A>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK3795; 606075.0012
|CLNSIG=5
|CLNCUI=C1849096
|CLNDBN=Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
|Disease=Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
|CLNACC=RCV000020865.2
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK3795:C1849096:271245:1186
}}{{PMID Auto
|PMID=16135556
|Title=Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
}}

{{PMID Auto
|PMID=17921179
|Title=Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
}}