C64* (p.Cys64Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
C64* (p.Cys64Ter) 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 population frequency data, published literature, and structural context.
C64* (p.Cys64Ter) variant details
- p.Cys64Ter
- rs121912897
- ClinGen CA127183
- ClinVar RCV000018945
- ClinVar RCV000657640
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler… (PMID 17721977)
- Cited in: Stickler Syndrome. (PMID 20301479)