E13* (p.Glu13Ter) variant of COL17A1 (Collagen alpha-1(XVII) chain)
E13* (p.Glu13Ter) in COL17A1 (Collagen alpha-1(XVII) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- rs2493395783
- ClinGen CA378083051
- ClinVar RCV003858694
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic