K20* (p.Lys20Ter) variant of BRIP1 (Fanconi anemia group J protein)
K20* (p.Lys20Ter) in BRIP1 (Fanconi anemia group J protein) 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.
K20* (p.Lys20Ter) variant details
- p.Lys20Ter
- rs2545480384
- ClinGen CA400485973
- ClinVar RCV003234847
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)