R43* (p.Arg43Ter) variant of CDKN1B (P46527)
R43* (p.Arg43Ter) in CDKN1B (P46527) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
R43* (p.Arg43Ter) variant details
- p.Arg43Ter
- rs797044481
- ClinGen CA212533
- ClinVar RCV000191951
- Ensembl rs797044481
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)