G630C (p.Gly630Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
G630C (p.Gly630Cys) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spondyloepiphyseal dysplasia congenita. The record also includes structural context.
G630C (p.Gly630Cys) variant details
- p.Gly630Cys
- cosmic curated COSV10047
- gnomAD rs1326550771
- Pathogenic
- Spondyloepiphyseal dysplasia congenita
- Missense
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia congenita)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available