NM_000498.3(CYP11B2):c.-14G>C AND Corticosterone 18-monooxygenase deficiency
- Germline classification:
- Likely benign (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:
- RCV000381522.5
Allele description [Variation Report for NM_000498.3(CYP11B2):c.-14G>C]
NM_000498.3(CYP11B2):c.-14G>C
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