E110* (p.Glu110Ter) variant of IL2RG (P31785)
E110* (p.Glu110Ter) in IL2RG (P31785) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E110* (p.Glu110Ter) variant details
- p.Glu110Ter
- rs2147750382
- ClinGen CA413496806
- ClinVar RCV001878969
- Ensembl rs2147750382
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)