G1176V (p.Gly1176Val) variant of COL2A1 (Collagen alpha-1(II) chain)
G1176V (p.Gly1176Val) 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, Stanescu type. The record also includes published literature and structural context.
G1176V (p.Gly1176Val) variant details
- p.Gly1176Val
- UniProt VAR 066836
- Pathogenic
- Spondyloepiphyseal dysplasia, Stanescu type
- Missense
- ClinVar: Pathogenic (Spondyloepiphyseal dysplasia, Stanescu type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes… (PMID 21922596)