Variant: rs121907987 

    present in Gene: PHGDH
    present in Chromosome: 1
    Position on Chromosome: 119743906
    Alleles of this Variant: G/A

rs121907987 in PHGDH gene and Phosphoglycerate Dehydrogenase Deficiency PMID 11751922 2002 V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.

PMID 19235232 2009 Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

PMID 11055895 2000 Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.