Gene entry
D2HGDH
D-2-hydroxyglutarate dehydrogenase
- Chromosome
- 2
- Cytoband
- 2q37.3
- Variants (rsID)
- 15
D2HGDH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q37.3). Its official name is “D-2-hydroxyglutarate dehydrogenase”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs1106639Benignsingle nucleotide variantD-2-hydroxyglutaric aciduria 1
- rs145823152Benignsingle nucleotide variantD-2-hydroxyglutaric aciduria 1
- rs6716743Benignsingle nucleotide variantD-2-hydroxyglutaric aciduria 1
- rs143460342Conflicting interpretationssingle nucleotide variantSeizure|D-2-hydroxyglutaric aciduria 1
- rs149628174Conflicting interpretationssingle nucleotide variantD-2-hydroxyglutaric aciduria 1
- rs201926349Uncertain significancesingle nucleotide variantD-2-hydroxyglutaric aciduria 1
- rs34767042Not classifiedintron_variant
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.