E34* (p.Glu34Ter) variant of IL2RG (P31785)
E34* (p.Glu34Ter) 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.
E34* (p.Glu34Ter) variant details
- p.Glu34Ter
- rs1556331272
- ClinGen CA413497595
- NCI-TCGA Cosmic COSV5214
- cosmic curated COSV52147
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)