NM_139276.3(STAT3):c.*582A>T AND Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000376355.6
Allele description [Variation Report for NM_139276.3(STAT3):c.*582A>T]
NM_139276.3(STAT3):c.*582A>T
Condition(s)
- Name:
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Synonyms:
- Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant; HIES autosomal dominant; AD hyperimmunoglobulin E syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007818; MedGen: C4721531; Orphanet: 2314; OMIM: 147060
Assertion and evidence details
Last Updated: Dec 24, 2023