Y93* (p.Tyr93Ter) variant of NKX2-5 (Homeobox protein Nkx-2.5)
Y93* (p.Tyr93Ter) 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.
Y93* (p.Tyr93Ter) variant details
- p.Tyr93Ter
- rs2480079410
- ClinGen CA362163335
- ClinVar RCV003510652
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available