G840S (p.Gly840Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G840S (p.Gly840Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Spondyloepimetaphyseal dysplasia, Strudwick type. The record also includes structural context.
G840S (p.Gly840Ser) variant details
- p.Gly840Ser
- gnomAD rs1225906671
- Likely pathogenic
- Spondyloepimetaphyseal dysplasia, Strudwick type
- Missense
- ClinVar: Likely pathogenic (Spondyloepimetaphyseal dysplasia, Strudwick type)
- UniProt: Likely pathogenic
- Structural context available