L61* (p.Leu61Ter) variant of COL4A5 (Collagen alpha-5(IV) chain)
L61* (p.Leu61Ter) in COL4A5 (Collagen alpha-5(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.
L61* (p.Leu61Ter) variant details
- p.Leu61Ter
- rs2065868148
- ClinGen CA413914424
- ClinVar RCV001263607
- Ensembl rs2065868148
- 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)