Annotation Detail
Information
- Associated Genes
- NFKBIA
- Associated Variants
-
NFKBIA c.636+17C>T
(
ENST00000216797.10,
ENST00000557389.1,
ENST00000697961.1,
ENST00000557140.5,
ENST00000697962.1 )
NFKBIA c.636+17C>T ( ENST00000216797.10, ENST00000557140.5, ENST00000557389.1, ENST00000697961.1, ENST00000697962.1 ) - Associated Disease
- ectodermal dysplasia and immunodeficiency 2
- Source Database
- ClinVar
- Description
- NM_020529.3(NFKBIA):c.636+17C>T AND Ectodermal dysplasia and immunodeficiency 2
- ClinVar Allele ID
- 1157239
- ClinVar RefSeq Alternation Syntax
- NM_020529.3:c.636+17C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001515227
- ClinVar Disease
- Ectodermal dysplasia and immunodeficiency 2
- Observed Origin Sample
- germline
Drugs