Q444H (p.Gln444His) variant of RB1 (P06400)
Q444H (p.Gln444His) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinoblastoma. The record also includes published literature and structural context.
Q444H (p.Gln444His) variant details
- p.Gln444His
- rs1555286250
- ClinGen CA388162194
- ClinVar RCV000632946
- Ensembl rs1555286250
- Pathogenic
- Retinoblastoma
- Missense
- ClinVar: Pathogenic (Retinoblastoma)
- 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)