NM_005149.3(TBX19):c.377C>T (p.Pro126Leu) AND Congenital isolated adrenocorticotropic hormone deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001028024.1
Allele description [Variation Report for NM_005149.3(TBX19):c.377C>T (p.Pro126Leu)]
NM_005149.3(TBX19):c.377C>T (p.Pro126Leu)
Condition(s)
- Name:
- Congenital isolated adrenocorticotropic hormone deficiency
- Synonyms:
- ACTH DEFICIENCY, ISOLATED; ACTH deficiency; Adrenocorticotropic hormone deficiency
- Identifiers:
- MONDO: MONDO:0008720; MedGen: C0342388; Orphanet: 199296; OMIM: 201400; Human Phenotype Ontology: HP:0011748
Assertion and evidence details
Last Updated: Apr 23, 2022