Q105* (p.Gln105Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
Q105* (p.Gln105Ter) in COL2A1 (Collagen alpha-1(II) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q105* (p.Gln105Ter) variant details
- p.Gln105Ter
- rs2540182818
- ClinGen CA384525428
- ClinVar RCV002863500
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available