C57* (p.Cys57Ter) variant of COL4A4 (Collagen alpha-4(IV) chain)
C57* (p.Cys57Ter) in COL4A4 (Collagen alpha-4(IV) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
C57* (p.Cys57Ter) variant details
- p.Cys57Ter
- rs2476899667
- ClinGen CA350866285
- ClinVar RCV002310331
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)