G60A (p.Gly60Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
G60A (p.Gly60Ala) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
G60A (p.Gly60Ala) variant details
- p.Gly60Ala
- rs2540187654
- ClinGen CA384526327
- ClinVar RCV003005164
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available