A35R (p.Ala35Arg) variant of BMPR2 (Q13873)
A35R (p.Ala35Arg) in BMPR2 (Q13873) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
A35R (p.Ala35Arg) variant details
- p.Ala35Arg
- rs1085307164
- ClinGen CA645293989
- ClinVar RCV000488842
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)