Variant: rs104894587 

    present in Gene: MPDU1
    present in Chromosome: 17
    Position on Chromosome: 7586745
    Alleles of this Variant: T/C

rs104894587 in MPDU1 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.