Variant: rs199589947 

    present in Gene: LARS2;LARS2-AS1
    present in Chromosome: 3
    Position on Chromosome: 45496316
    Alleles of this Variant: C/A

rs199589947 in LARS2;LARS2-AS1 gene and HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA PMID 26537577 2016 LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

rs199589947 in LARS2;LARS2-AS1 gene and PERRAULT SYNDROME 4 PMID 23541342 2013 Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.