Q30* (p.Gln30Ter) variant of BMPR2 (Q13873)
Q30* (p.Gln30Ter) 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.
Q30* (p.Gln30Ter) variant details
- p.Gln30Ter
- rs1085307161
- ClinGen CA350398991
- ClinVar RCV000488840
- ClinVar RCV006605272
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)