NM_002150.3(HPD):c.914C>T (p.Thr305Met) AND Hawkinsinuria
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000400625.5
Allele description [Variation Report for NM_002150.3(HPD):c.914C>T (p.Thr305Met)]
NM_002150.3(HPD):c.914C>T (p.Thr305Met)
Condition(s)
- Name:
- Hawkinsinuria
- Synonyms:
- 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
- Identifiers:
- MONDO: MONDO:0007700; MedGen: C2931042; Orphanet: 2118; OMIM: 140350; Human Phenotype Ontology: HP:0034457
Assertion and evidence details
Last Updated: Dec 24, 2023