G850E (p.Gly850Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
G850E (p.Gly850Glu) 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 Multiple prenatal fractures; Skeletal dysplasia. The record also includes published literature and structural context.
G850E (p.Gly850Glu) variant details
- p.Gly850Glu
- rs1057518967
- ClinGen CA16043430
- ClinVar RCV000415158
- Ensembl rs1057518967
- Pathogenic
- Multiple prenatal fractures; Skeletal dysplasia
- Missense
- ClinVar: Pathogenic (Multiple prenatal fractures; Skeletal dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Focused Revision: ACMG practice resource: Genetic evaluation of short stature. (PMID 33514815)