NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) AND Ectodermal dysplasia and immunodeficiency 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002470750.9
Allele description [Variation Report for NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn)]
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn)
Condition(s)
- Name:
- Ectodermal dysplasia and immunodeficiency 1 (EDAID1)
- Synonyms:
- Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; ECTODERMAL DYSPLASIA AND IMMUNE DEFICIENCY 1; Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0020740; MedGen: C1846008; Orphanet: 238468; Orphanet: 98813; OMIM: 300291
Assertion and evidence details
Last Updated: Nov 24, 2024