Variant: rs587783070 

    present in Gene: IARS2
    present in Chromosome: 1
    Position on Chromosome: 220143109
    Alleles of this Variant: C/T

rs587783070 in IARS2 gene and CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 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.

rs587783070 in IARS2 gene and Cataract 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.

rs587783070 in IARS2 gene and Peripheral Neuropathy 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.