G1102A (p.Gly1102Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
G1102A (p.Gly1102Ala) 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 Osteogenesis imperfecta with normal sclerae, dominant form; Cardiovascular pheno. The record also includes published literature and structural context.
G1102A (p.Gly1102Ala) variant details
- p.Gly1102Ala
- rs68063264
- ClinGen CA368225688
- ClinVar RCV001253080
- ClinVar RCV002451621
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Cardiovascular pheno
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Card)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)