Variant: rs587776444

present in Gene: COX3;ND3;ATP6;ATP8;ND4;ND4L present in Chromosome: MT Position on Chromosome: 8989 Alleles of this Variant: G/C

rs587776444 in COX3;ND3;ATP6;ATP8;ND4;ND4L gene and Leigh Disease PMID 23266623 2013 A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.