Q61* (p.Gln61Ter) variant of IL2RG (P31785)
Q61* (p.Gln61Ter) 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.
Q61* (p.Gln61Ter) variant details
- p.Gln61Ter
- rs1569480082
- ClinGen CA413497169
- ClinVar RCV000781479
- Ensembl rs1569480082
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)