Q15* (p.Gln15Ter) variant of IL2RG (P31785)
Q15* (p.Gln15Ter) 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.
Q15* (p.Gln15Ter) variant details
- p.Gln15Ter
- rs1057517747
- ClinGen CA16043285
- ClinVar RCV000412822
- ClinVar RCV001251321
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)