G702S (p.Gly702Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G702S (p.Gly702Ser) 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. The record also includes published literature and structural context.
G702S (p.Gly702Ser) variant details
- p.Gly702Ser
- rs2540136191
- ClinGen CA384547235
- ClinVar RCV002290047
- Likely pathogenic
- Spondyloepiphyseal dysplasia congenita
- Missense
- ClinVar: Likely pathogenic (Spondyloepiphyseal dysplasia congenita)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)