G835D (p.Gly835Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G835D (p.Gly835Asp) 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 not provided; Osteogenesis imperfecta with normal sclerae, dominant form. The record also includes published literature and structural context.
G835D (p.Gly835Asp) variant details
- p.Gly835Asp
- rs2115941300
- ClinGen CA368224053
- NCI-TCGA Cosmic COSV5195
- cosmic curated COSV51958
- Likely pathogenic
- not provided; Osteogenesis imperfecta with normal sclerae, dominant form
- Missense
- ClinVar: Likely pathogenic (not provided; Osteogenesis imperfecta with normal sclerae, domin)
- EBI: Likely pathogenic (in OI1)
- UniProt: Likely pathogenic (in OI1)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)