Y6* (p.Tyr6Ter) variant of APC (Adenomatous polyposis coli protein)
Y6* (p.Tyr6Ter) in APC (Adenomatous polyposis coli protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y6* (p.Tyr6Ter) variant details
- p.Tyr6Ter
- rs786202301
- ClinGen CA16021372
- ClinVar RCV004565047
- TOPMed rs786202301
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)