G47* (p.Gly47Ter) variant of BMPR1A (P36894)
G47* (p.Gly47Ter) 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.
G47* (p.Gly47Ter) variant details
- p.Gly47Ter
- rs1564714809
- ClinGen CA377446629
- ClinVar RCV002233157
- Ensembl rs1564714809
- 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)