G1080R (p.Gly1080Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G1080R (p.Gly1080Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spondyloepiphyseal dysplasia congenita; not provided. The record also includes structural context.
G1080R (p.Gly1080Arg) variant details
- p.Gly1080Arg
- rs2540107776
- ClinGen CA384540190
- ClinVar RCV003143619
- Likely pathogenic
- Spondyloepiphyseal dysplasia congenita; not provided
- Missense
- ClinVar: Likely pathogenic (Spondyloepiphyseal dysplasia congenita; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available