T9N (p.Thr9Asn) variant of RB1 (P06400)
T9N (p.Thr9Asn) in RB1 (P06400) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
T9N (p.Thr9Asn) variant details
- p.Thr9Asn
- rs2542093245
- ClinVar RCV004557029
- Pathogenic
- Missense
- 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)