Annotation Detail
Information
- Associated Genes
- NFKBIA
- Associated Variants
-
NC_000014.9:g.35405648T>C
NC_000014.9:g.35405648T>C - Associated Disease
- ectodermal dysplasia and immunodeficiency 2
- Source Database
- ClinVar
- Description
- NC_000014.9:g.35405648T>C AND Ectodermal dysplasia and immunodeficiency 2
- ClinVar Allele ID
- 1157246
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001517841
- ClinVar Disease
- Ectodermal dysplasia and immunodeficiency 2
- Observed Origin Sample
- germline
Drugs