G40* (p.Gly40Ter) variant of COL4A4 (Collagen alpha-4(IV) chain)
G40* (p.Gly40Ter) 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.
G40* (p.Gly40Ter) variant details
- p.Gly40Ter
- rs2125292585
- ClinGen CA350866605
- ClinVar RCV001380123
- Ensembl rs2125292585
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available