Y30* (p.Tyr30Ter) variant of COL4A5 (Collagen alpha-5(IV) chain)
Y30* (p.Tyr30Ter) 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.
Y30* (p.Tyr30Ter) variant details
- p.Tyr30Ter
- rs104886047
- ClinGen CA258207
- ClinVar RCV001381884
- ClinVar RCV005042076
- 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)