G1086R (p.Gly1086Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G1086R (p.Gly1086Arg) 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, Stanescu type; not provided. The record also includes structural context.
G1086R (p.Gly1086Arg) variant details
- p.Gly1086Arg
- rs2540107727
- ClinGen CA384540083
- ClinVar RCV003337795
- ClinVar RCV006472415
- Likely pathogenic
- Spondyloepiphyseal dysplasia, Stanescu type; not provided
- Missense
- ClinVar: Likely pathogenic (Spondyloepiphyseal dysplasia, Stanescu type; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available