Q118* (p.Gln118Ter) variant of IL2RG (P31785)
Q118* (p.Gln118Ter) 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.
Q118* (p.Gln118Ter) variant details
- p.Gln118Ter
- rs2519647207
- ClinGen CA413496754
- ClinVar RCV003509057
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)