Y36* (p.Tyr36Ter) variant of POT1 (Q9NUX5)
Y36* (p.Tyr36Ter) in POT1 (Q9NUX5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Y36* (p.Tyr36Ter) variant details
- p.Tyr36Ter
- rs2485562504
- ClinGen CA369065998
- ClinVar RCV002446212
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely 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)