present in Gene: COX1;TRNW;ND2
present in Chromosome: MT
Position on Chromosome: 5523
Alleles of this Variant: T/G
rs587776435 in
COX1;TRNW;ND2 gene and
Leigh Disease
PMID 19349200 2009 Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.