Y97* (p.Tyr97Ter) variant of NKX2-5 (Homeobox protein Nkx-2.5)
Y97* (p.Tyr97Ter) 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.
Y97* (p.Tyr97Ter) variant details
- p.Tyr97Ter
- rs2480079337
- ClinGen CA362163312
- ClinVar RCV003620674
- ClinVar RCV004371647
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available