Q42* (p.Gln42Ter) variant of BMPR2 (Q13873)
Q42* (p.Gln42Ter) 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.
Q42* (p.Gln42Ter) variant details
- p.Gln42Ter
- rs1085307166
- ClinGen CA350399161
- ClinVar RCV000488756
- Ensembl rs1085307166
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)