Variant: rs760412883

present in Gene: DNA2 present in Chromosome: 10 Position on Chromosome: 68459144 Alleles of this Variant: T/C

rs760412883 in DNA2 gene and PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 PMID 23352259 2013 Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.