G379E (p.Gly379Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
G379E (p.Gly379Glu) 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, perinatal lethal; Combined osteogenesis imperfecta and. The record also includes published literature and structural context.
G379E (p.Gly379Glu) variant details
- p.Gly379Glu
- rs121912912
- ClinGen CA368221227
- ClinVar RCV000489404
- ClinVar RCV005034028
- Pathogenic
- Osteogenesis imperfecta, perinatal lethal; Combined osteogenesis imperfecta and
- Missense
- ClinVar: Pathogenic (Osteogenesis imperfecta, perinatal lethal; Combined osteogenesis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)