S64* (p.Ser64Ter) variant of BMPR2 (Q13873)
S64* (p.Ser64Ter) 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 structural context.
S64* (p.Ser64Ter) variant details
- p.Ser64Ter
- rs2469639019
- ClinGen CA2580065450
- ClinVar RCV002285241
- ClinVar RCV006470429
- Pathogenic
- in PPH1
- Stop Gained
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available