NM_020529.2(NFKBIA):c.*126G>A AND Ectodermal dysplasia and immunodeficiency 2
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000260426.1
Allele description
NM_020529.2(NFKBIA):c.*126G>A
Condition(s)
- Name:
- Ectodermal dysplasia and immunodeficiency 2 (EDAID2)
- Synonyms:
- Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant; ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY 2; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNODEFICIENCY 2
- Identifiers:
- MONDO: MONDO:0012806; MedGen: C2677481; Orphanet: 238468; Orphanet: 98813; OMIM: 612132
Assertion and evidence details
Last Updated: Apr 18, 2020