G18* (p.Gly18Ter) variant of C5 (Complement C5)
G18* (p.Gly18Ter) in C5 (Complement C5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G18* (p.Gly18Ter) variant details
- p.Gly18Ter
- rs2540464494
- ClinGen CA374735405
- ClinVar RCV003664627
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available