D43H (p.Asp43His) variant of COL2A1 (Collagen alpha-1(II) chain)
D43H (p.Asp43His) 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.
D43H (p.Asp43His) variant details
- p.Asp43His
- rs2540187816
- ClinGen CA384526617
- ClinVar RCV003860805
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available