Variant: rs267606949 

    present in Gene: LOC105378936;PHGDH
    present in Chromosome: 1
    Position on Chromosome: 119726897
    Alleles of this Variant: C/A;G;T

rs267606949 in LOC105378936;PHGDH gene and Phosphoglycerate Dehydrogenase Deficiency 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.