PHGDH

Gene name: phosphoglycerate dehydrogenase
OMIM ID: 606879
Chromosome location: 1q12

Mutations

Disease/Phenotype	Phosphoglycerate dehydrogenase deficiency
Reference transcript	NM_006623.3
DNA Change	c.1273G>A
A.A. Change	p.Val425Met
Exon/Intron	exon 11
Mutation Type	substitution
Reference	Klomp LW, de Koning TJ, Malingr? HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R.Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. Am J Hum Genet. 2000 Dec;67(6):1389-99.

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