K8* (p.Lys8Ter) variant of RB1 (P06400)
K8* (p.Lys8Ter) in RB1 (P06400) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K8* (p.Lys8Ter) variant details
- p.Lys8Ter
- rs2542093262
- ClinGen CA2697551897
- ClinVar RCV003514161
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Retinoblastoma. (PMID 20301625)