C86* (p.Cys86Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
C86* (p.Cys86Ter) 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 published literature and structural context.
C86* (p.Cys86Ter) variant details
- p.Cys86Ter
- rs794727261
- ClinGen CA302808
- ClinVar RCV000255165
- ClinVar RCV000762897
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)
- Cited in: Stickler Syndrome. (PMID 20301479)