G202D (p.Gly202Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G202D (p.Gly202Asp) 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 Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I. The record also includes published literature and structural context.
G202D (p.Gly202Asp) variant details
- p.Gly202Asp
- rs72656377
- ClinGen CA162917434
- ClinVar RCV001972528
- ClinVar RCV005627117
- Pathogenic
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- Missense
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)