Y33* (p.Tyr33Ter) variant of GATA2 (P23769)
Y33* (p.Tyr33Ter) in GATA2 (P23769) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y33* (p.Tyr33Ter) variant details
- p.Tyr33Ter
- rs2472934740
- ClinGen CA354408897
- ClinVar RCV002834496
- ClinVar RCV005239516
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available