G429D (p.Gly429Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G429D (p.Gly429Asp) 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 Spondyloperipheral dysplasia; not provided; COL2A1-related disorder. The record also includes structural context.
G429D (p.Gly429Asp) variant details
- p.Gly429Asp
- rs2540151727
- ClinGen CA384554006
- ClinVar RCV004531617
- ClinVar RCV005639510
- Pathogenic
- Spondyloperipheral dysplasia; not provided; COL2A1-related disorder
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available