G765S (p.Gly765Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G765S (p.Gly765Ser) 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 Achondrogenesis type II. The record also includes published literature and structural context.
G765S (p.Gly765Ser) variant details
- p.Gly765Ser
- rs2540133960
- ClinGen CA384545905
- ClinVar RCV003447778
- Likely pathogenic
- Achondrogenesis type II
- Missense
- ClinVar: Likely pathogenic (Achondrogenesis type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)