Variant: rs757743894 

    present in Gene: RARS2
    present in Chromosome: 6
    Position on Chromosome: 87545677
    Alleles of this Variant: TTT/-

rs757743894 in RARS2 gene and Pontocerebellar Hypoplasia Type 6 PMID 22086604 2012 Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

PMID 27061686 2016 RARS2 mutations in a sibship with infantile spasms.