Q41* (p.Gln41Ter) variant of BMPR1A (P36894)
Q41* (p.Gln41Ter) in BMPR1A (P36894) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q41* (p.Gln41Ter) variant details
- p.Gln41Ter
- rs2539431082
- ClinGen CA377446515
- ClinVar RCV003596945
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)