NM_000515.5(GH1):c.452T>C (p.Met151Thr) AND Autosomal dominant isolated somatotropin deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002226579.1
Allele description [Variation Report for NM_000515.5(GH1):c.452T>C (p.Met151Thr)]
NM_000515.5(GH1):c.452T>C (p.Met151Thr)
Condition(s)
- Name:
- Autosomal dominant isolated somatotropin deficiency (IGHD2)
- Synonyms:
- IGHD II; Isolated growth hormone deficiency type 2; Growth hormone deficiency, isolated autosomal dominant; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008250; MedGen: C0271567; Orphanet: 631; OMIM: 173100
Assertion and evidence details
Last Updated: Dec 24, 2023