G101* (p.Gly101Ter) variant of COL4A4 (Collagen alpha-4(IV) chain)
G101* (p.Gly101Ter) 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.
G101* (p.Gly101Ter) variant details
- p.Gly101Ter
- rs2476237771
- ClinGen CA350863254
- ClinVar RCV003561566
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available