NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly) AND Glucocorticoid-remediable aldosteronism
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001161915.4
Allele description [Variation Report for NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly)]
NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly)
Condition(s)
- 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