Y67* (p.Tyr67Ter) variant of BMPR2 (Q13873)
Y67* (p.Tyr67Ter) in BMPR2 (Q13873) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PPH1. The record also includes published literature and structural context.
Y67* (p.Tyr67Ter) variant details
- p.Tyr67Ter
- rs1085307179
- ClinGen CA350399387
- ClinVar RCV000488520
- ClinVar RCV001376584
- Pathogenic
- in PPH1
- Stop Gained
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)