NM_000320.3(QDPR):c.520G>A (p.Gly174Arg) AND Dihydropteridine reductase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002040581.3
Allele description [Variation Report for NM_000320.3(QDPR):c.520G>A (p.Gly174Arg)]
NM_000320.3(QDPR):c.520G>A (p.Gly174Arg)
Condition(s)
- Name:
- Dihydropteridine reductase deficiency (HPABH4C)
- Synonyms:
- HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY; Quinoid dihydropteridine reductase deficiency; Phenylketonuria II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009862; MedGen: C0268465; Orphanet: 226; Orphanet: 238583; OMIM: 261630
Assertion and evidence details
Last Updated: Sep 29, 2024