G979R (p.Gly979Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G979R (p.Gly979Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Osteogenesis imperfecta, perinatal lethal. The record also includes published literature and structural context.
G979R (p.Gly979Arg) variant details
- p.Gly979Arg
- rs2115952631
- ClinGen CA368224917
- ClinVar RCV002071024
- Ensembl rs2115952631
- Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal
- Missense
- ClinVar: Likely pathogenic (Osteogenesis imperfecta, perinatal lethal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)