{{Rsnum
|rsid=80356542
|Chromosome=10
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=C10orf2
|position=100989162
|Gene_s=C10orf2,MRPL43
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80356542
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=102748919
|CHROM=10
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=MRPL43:84545; C10orf2:56652
|GENE_NAME=MRPL43; C10orf2
|GENE_ID=84545; 56652
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.102748919G>A
|CLNORIGIN=0
|CLNSIG=5
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNACC=RCV000020866.2
|CLNDBN=Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK3795:C1849096:271245:1186
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK3795; 606075.0015
|Disease=Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
}}{{PMID Auto
|PMID=17921179
|Title=Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
}}