G265D (p.Gly265Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G265D (p.Gly265Asp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, classic type, 1; Osteo. The record also includes published literature and structural context.
G265D (p.Gly265Asp) variant details
- p.Gly265Asp
- rs72656386
- ClinGen CA162919498
- ClinVar RCV000490709
- ClinVar RCV001851298
- Pathogenic
- Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, classic type, 1; Osteo
- Missense
- ClinVar: Pathogenic (Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, classi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)