G927V (p.Gly927Val) variant of COL2A1 (Collagen alpha-1(II) chain)
G927V (p.Gly927Val) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spondyloepiphyseal dysplasia congenita. The record also includes published literature and structural context.
G927V (p.Gly927Val) variant details
- p.Gly927Val
- rs2540113631
- ClinGen CA384542382
- ClinVar RCV002282590
- Pathogenic
- Spondyloepiphyseal dysplasia congenita
- Missense
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia congenita)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)