Variant: rs1288116010 

    present in Gene: EPRS1
    present in Chromosome: 1
    Position on Chromosome: 219982801
    Alleles of this Variant: G/C

rs1288116010 in EPRS1 gene and LEUKODYSTROPHY, HYPOMYELINATING, 15 PMID 29576217 2018 Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.