G982S (p.Gly982Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G982S (p.Gly982Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Osteogenesis imperfecta with normal sclerae, dominant form; Osteog. The record also includes published literature and structural context.
G982S (p.Gly982Ser) variant details
- p.Gly982Ser
- rs1792269292
- ClinGen CA368224949
- ClinVar RCV002241594
- ClinVar RCV005627112
- Pathogenic/Likely pathogenic
- not provided; Osteogenesis imperfecta with normal sclerae, dominant form; Osteog
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Osteogenesis imperfecta with normal sclerae, domin)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)