Variant: rs1135401728 

    present in Gene: NGLY1
    present in Chromosome: 3
    Position on Chromosome: 25733963
    Alleles of this Variant: C/G;T

rs1135401728 in NGLY1 gene and NGLY1 deficiency PMID 27388694 2017 Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.