Annotation Detail

Information
Associated Genes
NFKBIA
Associated Variants
NC_000014.9:g.35405064G>A
NC_000014.9:g.35405064G>A
Associated Disease
ectodermal dysplasia and immunodeficiency 2
Source Database
ClinVar
Description
NC_000014.9:g.35405064G>A AND Ectodermal dysplasia and immunodeficiency 2
ClinVar Allele ID
1157242
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/RCV001517839
ClinVar Disease
Ectodermal dysplasia and immunodeficiency 2
Observed Origin Sample
germline
Drugs