Variant: rs10250779 

    present in Gene: PGAM2;DBNL
    present in Chromosome: 7
    Position on Chromosome: 44065297
    Alleles of this Variant: C/A;G;T

rs10250779 in PGAM2;DBNL gene and Glycogen storage disease type X PMID 27612597 2016 Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.

PMID 8447317 1993 The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.