NM_000497.4(CYP11B1):c.157C>T (p.Leu53=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002495673.1
Allele description [Variation Report for NM_000497.4(CYP11B1):c.157C>T (p.Leu53=)]
NM_000497.4(CYP11B1):c.157C>T (p.Leu53=)
Condition(s)
- Name:
- Deficiency of steroid 11-beta-monooxygenase (CYP11B1)
- Synonyms:
- ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008729; MedGen: C0268292; OMIM: 202010
- Name:
- Glucocorticoid-remediable aldosteronism
- Synonyms:
- ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE; FH I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007080; MedGen: C3838731; Orphanet: 403; OMIM: 103900
Assertion and evidence details
Last Updated: Sep 29, 2024