Y64* (p.Tyr64Ter) variant of COL17A1 (Collagen alpha-1(XVII) chain)
Y64* (p.Tyr64Ter) in COL17A1 (Collagen alpha-1(XVII) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
Y64* (p.Tyr64Ter) variant details
- p.Tyr64Ter
- rs1213569173
- ClinGen CA378081843
- ClinVar RCV003567931
- gnomAD rs1213569173
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic