S96* (p.Ser96Ter) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S96* (p.Ser96Ter) in COL17A1 (Collagen alpha-1(XVII) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
S96* (p.Ser96Ter) variant details
- p.Ser96Ter
- rs2493387507
- ClinGen CA378081201
- ClinVar RCV003690859
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic