Q61* (p.Gln61Ter) variant of RAG1 (P15918)
Q61* (p.Gln61Ter) in RAG1 (P15918) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q61* (p.Gln61Ter) variant details
- p.Gln61Ter
- rs2494750358
- ClinGen CA380145814
- ClinVar RCV003472546
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available