P26N (p.Pro26Asn) variant of RB1 (P06400)
P26N (p.Pro26Asn) 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.
P26N (p.Pro26Asn) variant details
- p.Pro26Asn
- rs2542093681
- ClinGen CA2580087723
- ClinVar RCV003176998
- Pathogenic
- Missense
- 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)