NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val) AND Corticosterone 18-monooxygenase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 15, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001162100.4
Allele description [Variation Report for NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val)]
NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val)
Condition(s)
- Name:
- Corticosterone 18-monooxygenase deficiency
- Synonyms:
- ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE; ALDOSTERONE DEFICIENCY I; CMO I DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008751; MedGen: C0268293; Orphanet: 427; OMIM: 203400
Assertion and evidence details
Last Updated: Apr 6, 2024