Q144* (p.Gln144Ter) variant of IL2RG (P31785)
Q144* (p.Gln144Ter) in IL2RG (P31785) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XSCID. The record also includes published literature and structural context.
Q144* (p.Gln144Ter) variant details
- p.Gln144Ter
- rs1602289411
- ClinGen CA413496574
- ClinVar RCV000804431
- Ensembl rs1602289411
- Pathogenic
- in XSCID
- Stop Gained
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)