Y56* (p.Tyr56Ter) variant of NKX2-5 (Homeobox protein Nkx-2.5)
Y56* (p.Tyr56Ter) in NKX2-5 (Homeobox protein Nkx-2.5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y56* (p.Tyr56Ter) variant details
- p.Tyr56Ter
- rs756377692
- ClinGen CA362163549
- ClinVar RCV002819875
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available