Variant: rs373436822

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.