Y59* (p.Tyr59Ter) variant of GATA2 (P23769)
Y59* (p.Tyr59Ter) in GATA2 (P23769) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y59* (p.Tyr59Ter) variant details
- p.Tyr59Ter
- rs146150325
- ClinGen CA354408449
- ClinVar RCV001311611
- ClinVar RCV001542132
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available