Gene entry
PHGDH
phosphoglycerate dehydrogenase
- Chromosome
- 1
- Cytoband
- 1p12
- Variants (rsID)
- 21
PHGDH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p12). Its official name is “phosphoglycerate dehydrogenase”. The reference table lists 21 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs543703Benignsingle nucleotide variantPHGDH deficiency|Neu-Laxova syndrome 1
- rs121907988Conflicting interpretationssingle nucleotide variantPHGDH deficiency|Neu-Laxova syndrome 1
- rs267606949Conflicting interpretationssingle nucleotide variantPHGDH deficiency|Neu-Laxova syndrome 1|PHGDH deficiency
- rs121907987Pathogenicsingle nucleotide variantPHGDH deficiency|See cases
- rs886041874Pathogenicsingle nucleotide variantEpileptic encephalopathy|Seizure|PHGDH deficiency
- rs139063843Uncertain significancesingle nucleotide variantPHGDH deficiency|Neu-Laxova syndrome 1
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.