T9* (p.Thr9Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
T9* (p.Thr9Ter) 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.
T9* (p.Thr9Ter) variant details
- p.Thr9Ter
- rs1131691546
- ClinGen CA645369519
- ClinVar RCV000493711
- Pathogenic
- Stop Gained
- EBI: Pathogenic (in dbSNP:rs3803183)
- UniProt: Pathogenic (in dbSNP:rs3803183)
- Structural context available