H483R (p.His483Arg) variant of RB1 (P06400)
H483R (p.His483Arg) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinoblastoma. The record also includes published literature and structural context.
H483R (p.His483Arg) variant details
- p.His483Arg
- rs1948522736
- NCI-TCGA Cosmic COSV5730
- ClinVar RCV004557068
- Likely pathogenic
- Retinoblastoma
- Missense
- ClinVar: Likely pathogenic (Retinoblastoma)
- 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: Retinoblastoma. (PMID 20301625)