Y41* (p.Tyr41Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
Y41* (p.Tyr41Ter) 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.
Y41* (p.Tyr41Ter) variant details
- p.Tyr41Ter
- rs1226870134
- ClinGen CA384526646
- ClinVar RCV003062507
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available