Variant: rs281865495

present in Gene: TK2 present in Chromosome: 16 Position on Chromosome: 66517192 Alleles of this Variant: T/C

rs281865495 in TK2 gene and PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 PMID 21937588 2012 Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.