Variant: rs587777331 

    present in Gene: QARS1
    present in Chromosome: 3
    Position on Chromosome: 49104455
    Alleles of this Variant: C/A

rs587777331 in QARS1 gene and MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY PMID 26869582 2016 The crystal structure of human GlnRS provides basis for the development of neurological disorders.

PMID 24656866 2014 Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.