H53* (p.His53Ter) variant of BMPR2 (Q13873)
H53* (p.His53Ter) 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.
H53* (p.His53Ter) variant details
- p.His53Ter
- rs1085307169
- ClinGen CA645293991
- ClinVar RCV000488762
- ClinVar RCV001003650
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)