D92H (p.Asp92His) variant of COL2A1 (Collagen alpha-1(II) chain)
D92H (p.Asp92His) 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.
D92H (p.Asp92His) variant details
- p.Asp92His
- rs2540187330
- ClinGen CA384525833
- ClinVar RCV003685466
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available