C105* (p.Cys105Ter) variant of XPA (P23025)
C105* (p.Cys105Ter) in XPA (P23025) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C105* (p.Cys105Ter) variant details
- p.Cys105Ter
- rs138536873
- ClinGen CA374187845
- ClinVar RCV001883644
- ESP rs138536873
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available