NM_000281.4(PCBD1):c.217-11T>C AND Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002584784.3
Allele description [Variation Report for NM_000281.4(PCBD1):c.217-11T>C]
NM_000281.4(PCBD1):c.217-11T>C
Condition(s)
- Name:
- Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- Synonyms:
- CADH DEFICIENCY; Hyperphenylalaninemia, BH4-deficient, D; Hyperphenylalaninemia due to dehydratase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009908; MedGen: C1849700; Orphanet: 238583; OMIM: 264070
Assertion and evidence details
Last Updated: Sep 29, 2024