G193C (p.Gly193Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G193C (p.Gly193Cys) 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 not provided; Osteogenesis imperfecta with normal sclerae, dominant form. The record also includes structural context.
G193C (p.Gly193Cys) variant details
- p.Gly193Cys
- NCI-TCGA Cosmic COSV9980
- cosmic curated COSV99801
- ExAC rs72656370
- TOPMed rs72656370
- Pathogenic
- not provided; Osteogenesis imperfecta with normal sclerae, dominant form
- Missense
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta with normal sclerae, domin)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Structural context available