Variant: rs199474672

present in Gene: ND2;COX1;TRNW present in Chromosome: MT Position on Chromosome: 5537 Alleles of this Variant: -/T

rs199474672 in ND2;COX1;TRNW gene and Leigh Disease PMID 9266739 1997 Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.

PMID 12776230 2003 Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene.