G325R (p.Gly325Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G325R (p.Gly325Arg) 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 not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t. The record also includes published literature and structural context.
G325R (p.Gly325Arg) variant details
- p.Gly325Arg
- rs2484708287
- ClinGen CA368220899
- ClinVar RCV003141651
- ClinVar RCV003778824
- Uncertain significance
- not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Likely pathogenic (in OI4)
- UniProt: Likely pathogenic (in OI4)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)