{{Rsnum
|rsid=80356543
|Chromosome=10
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=C10orf2
|position=100989165
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=C10orf2,MRPL43
}}{{omim
|id=606075
|rsnum=80356543
|variant=0010
}}{{ClinVar
|rsid=80356543
|Reversed=0
|FwdREF=A
|FwdALT=C,G
|REF=A
|ALT=C,G
|RSPOS=102748922
|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=2
|CLNHGVS=NC_000010.10:g.102748922A>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK3795; 606075.0010
|CLNSIG=5
|CLNCUI=C1836439
|CLNDBN=Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|Disease=Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3; Sensory ataxic neuropathy
|CLNACC=RCV000004888.1; RCV000020867.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=C1836439:609286; NBK26471:NBK3795:C1843851:607459:ORPHA254818
}}{{PMID Auto
|PMID=15668446
|Title=Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.
}}