NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=) AND D-2-hydroxyglutaric aciduria
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000385247.1
Allele description
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=)
Condition(s)
- Name:
- D-2-hydroxyglutaric aciduria
- Identifiers:
- MONDO: MONDO:0010924; MedGen: C1833429; OMIM: PS600721; Human Phenotype Ontology: HP:0012321
Assertion and evidence details
Last Updated: May 12, 2020