present in Gene: IARS2
present in Chromosome: 1
Position on Chromosome: 220126827
Alleles of this Variant: G/A
rs373436822 in
IARS2 gene and
Leigh Disease
PMID 25130867 2014 Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.