C55* (p.Cys55Ter) variant of COL4A4 (Collagen alpha-4(IV) chain)
C55* (p.Cys55Ter) in COL4A4 (Collagen alpha-4(IV) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
C55* (p.Cys55Ter) variant details
- p.Cys55Ter
- rs768245333
- ClinGen CA350866319
- ClinVar RCV002243539
- ExAC rs768245333
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)