C72* (p.Cys72Ter) variant of IL2RG (P31785)
C72* (p.Cys72Ter) in IL2RG (P31785) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
C72* (p.Cys72Ter) variant details
- p.Cys72Ter
- rs2147750927
- ClinGen CA413497082
- ClinVar RCV001899190
- Ensembl rs2147750927
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)