Annotation Detail
Information
- Associated Genes
- IL7R
- Associated Variants
-
IL7R p.Ile66Thr (p.I66T)
(
ENST00000303115.8,
ENST00000506850.5,
ENST00000511982.1 )
IL7R p.Pro132Ser (p.P132S) ( ENST00000303115.8, ENST00000506850.5 )
IL7R p.Val138Ile (p.V138I) ( ENST00000303115.8, ENST00000506850.5 )
IL7R p.Trp217Ter (p.W217*) ( ENST00000303115.8, ENST00000506850.5 )
IL7R p.Ile66Thr (p.I66T) ( ENST00000303115.8, ENST00000506850.5, ENST00000511982.1 )
IL7R p.Pro132Ser (p.P132S) ( ENST00000303115.8, ENST00000506850.5 )
IL7R p.Val138Ile (p.V138I) ( ENST00000303115.8, ENST00000506850.5 )
IL7R p.Trp217Ter (p.W217*) ( ENST00000303115.8, ENST00000506850.5 ) - Associated Disease
- Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs