Y40* (p.Tyr40Ter) variant of BMPR2 (Q13873)
Y40* (p.Tyr40Ter) in BMPR2 (Q13873) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y40* (p.Tyr40Ter) variant details
- p.Tyr40Ter
- rs137852755
- ClinGen CA119938
- ClinVar RCV003984801
- Ensembl rs137852755
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. (PMID 16429395)