Annotation Detail
Information
- Associated Genes
- IL7R
- Associated Variants
-
IL7R p.Trp217Ter (p.W217*)
(
ENST00000303115.8,
ENST00000506850.5 )
IL7R p.Trp217Ter (p.W217*) ( ENST00000303115.8, ENST00000506850.5 ) - Associated Disease
- Immunodeficiency 104
- Source Database
- ClinVar
- Description
- NM_002185.5(IL7R):c.651G>A (p.Trp217Ter) AND Immunodeficiency 104
- ClinVar Allele ID
- 29881
- ClinVar RefSeq Alternation Syntax
- NM_002185.5:c.651G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015967
- ClinVar Disease
- Immunodeficiency 104
- Observed Origin Sample
- germline
- Pubmed
- 9843216
Drugs