C52* (p.Cys52Ter) variant of COL4A4 (Collagen alpha-4(IV) chain)
C52* (p.Cys52Ter) 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 structural context.
C52* (p.Cys52Ter) variant details
- p.Cys52Ter
- rs2125291854
- ClinGen CA350866388
- ClinVar RCV001387061
- Ensembl rs2125291854
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available