D37G (p.Asp37Gly) variant of COL1A2 (Collagen alpha-2(I) chain)
D37G (p.Asp37Gly) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1. The record also includes variant effect predictions, published literature, and structural context.
D37G (p.Asp37Gly) variant details
- p.Asp37Gly
- rs1791635844
- ClinGen CA368219053
- ClinVar RCV003804940
- TOPMed rs1791635844
- Uncertain significance
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
- Missense
- MutPred 0.32
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)