W20* (p.Trp20Ter) variant of COL4A5 (Collagen alpha-5(IV) chain)
W20* (p.Trp20Ter) in COL4A5 (Collagen alpha-5(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.
W20* (p.Trp20Ter) variant details
- p.Trp20Ter
- rs2523833248
- ClinGen CA413905987
- ClinVar RCV003387637
- ClinVar RCV005104267
- 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)