C59* (p.Cys59Ter) variant of POT1 (Q9NUX5)
C59* (p.Cys59Ter) in POT1 (Q9NUX5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
C59* (p.Cys59Ter) variant details
- p.Cys59Ter
- rs2116567603
- ClinGen CA369061558
- ClinVar RCV002404044
- Pathogenic
- Stop Gained
- 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)