C62* (p.Cys62Ter) variant of IL2RG (P31785)
C62* (p.Cys62Ter) 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.
C62* (p.Cys62Ter) variant details
- p.Cys62Ter
- rs111033619
- ClinGen CA254980
- ClinVar RCV000010702
- Ensembl rs111033619
- Pathogenic
- in XSCID
- Stop Gained
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency… (PMID 8401490)
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)