G449R (p.Gly449Arg) variant of RB1 (P06400)
G449R (p.Gly449Arg) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Retinoblastoma. The record also includes published literature and structural context.
G449R (p.Gly449Arg) variant details
- p.Gly449Arg
- rs1131690851
- NCI-TCGA Cosmic COSV5730
- Ensembl rs1131690851
- ClinGen CA388162556
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)