{{Rsnum
|rsid=80356541
|Chromosome=10
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=C10orf2
|Gene_s=C10orf2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|position=100989687
}}{{ClinVar
|ALT=T
|CHROM=10
|CLNACC=RCV000020863.1
|CLNALLE=1
|CLNDBN=Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK3795:C1849096:271245:1186
|CLNHGVS=NC_000010.10:g.102749444C>T
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK3795
|Disease=Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
|FwdALT=T
|FwdREF=C
|GENEINFO=C10orf2:56652
|GENE_ID=56652
|GENE_NAME=C10orf2
|REF=C
|RSPOS=102749444
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050368000000000002110100
|WGT=0
|dbSNPBuildID=131
|rsid=80356541
}}{{PMID Auto
|PMID=16135556
|Title=Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
}}