Q6* (p.Gln6Ter) variant of BMPR2 (Q13873)
Q6* (p.Gln6Ter) 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.
Q6* (p.Gln6Ter) variant details
- p.Gln6Ter
- rs886039219
- ClinGen CA10587991
- NCI-TCGA Cosmic COSV6581
- cosmic curated COSV65812
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)