G234D (p.Gly234Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G234D (p.Gly234Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Stickler syndrome; not provided. The record also includes structural context.
G234D (p.Gly234Asp) variant details
- p.Gly234Asp
- rs2540174470
- ClinGen CA384523628
- ClinVar RCV003046639
- Likely pathogenic
- Stickler syndrome; not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available