NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro) AND Corticosterone 18-monooxygenase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002267703.1
Allele description [Variation Report for NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro)]
NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro)
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
-
PREDICTED: Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript v...
PREDICTED: Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant X9, mRNAgi|2217316838|ref|XM_047437516.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 6, 2024