Variant: rs104894586 

    present in Gene: MPDU1;LOC100996842
    present in Chromosome: 17
    Position on Chromosome: 7585994
    Alleles of this Variant: G/A

rs104894586 in MPDU1;LOC100996842 gene and CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If PMID 11733556 2001 A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).

PMID 11733564 2001 MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.