Y69* (p.Tyr69Ter) variant of IL2RG (P31785)
Y69* (p.Tyr69Ter) 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.
Y69* (p.Tyr69Ter) variant details
- p.Tyr69Ter
- rs1282558220
- ClinGen CA413497107
- ClinVar RCV001211090
- TOPMed rs1282558220
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)