Variant: rs267606948 

    present in Gene: PHGDH
    present in Chromosome: 1
    Position on Chromosome: 119741817
    Alleles of this Variant: G/A;C

rs267606948 in PHGDH gene and NEU-LAXOVA SYNDROME 1 PMID 19235232 2009 Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

rs267606948 in PHGDH gene and Phosphoglycerate Dehydrogenase Deficiency PMID 11055895 2000 Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.

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