C89* (p.Cys89Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
C89* (p.Cys89Ter) 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.
C89* (p.Cys89Ter) variant details
- p.Cys89Ter
- rs2136636832
- ClinGen CA384525872
- NCI-TCGA Cosmic COSV6152
- ClinVar RCV001960525
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available