C1195R (p.Cys1195Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
C1195R (p.Cys1195Arg) 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 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2; Ehlers-Danlos syn. The record also includes published literature and structural context.
C1195R (p.Cys1195Arg) variant details
- p.Cys1195Arg
- rs2115962248
- ClinGen CA368226295
- ClinVar RCV002010354
- ClinVar RCV002259408
- Pathogenic/Likely pathogenic
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2; Ehlers-Danlos syn
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2; E)
- EBI: Pathogenic (in OI1)
- UniProt: Pathogenic (in OI1)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)