G499S (p.Gly499Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G499S (p.Gly499Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar 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.
G499S (p.Gly499Ser) variant details
- p.Gly499Ser
- NCI-TCGA Cosmic COSV5196
- cosmic curated COSV51965
- Pathogenic
- not provided; Osteogenesis imperfecta with normal sclerae, dominant form
- Missense
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta with normal sclerae, domin)
- UniProt: Pathogenic
- Structural context available