{{Rsnum
|rsid=386834145
|Chromosome=10
|position=100989766
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=C10orf2
|Gene_s=C10orf2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=10
|CLNACC=RCV000050139.1
|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.102749523C>G
|CLNSIG=4
|Disease=Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
|FwdALT=G
|FwdREF=C
|REF=C
|RSPOS=102749523
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386834145
|GENEINFO=C10orf2:56652
|GENE_ID=56652
|GENE_NAME=C10orf2
}}{{PMID Auto
|PMID=22353293
|Title=Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.
}}