G423S (p.Gly423Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G423S (p.Gly423Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Achondrogenesis type II; Autosomal dominant COL2A1-related disorders; not provid. The record also includes published literature and structural context.
G423S (p.Gly423Ser) variant details
- p.Gly423Ser
- rs2540151788
- ClinGen CA384554079
- ClinVar RCV003236501
- ClinVar RCV003669369
- Pathogenic/Likely pathogenic
- Achondrogenesis type II; Autosomal dominant COL2A1-related disorders; not provid
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Achondrogenesis type II; Autosomal dominant COL2A1-related disor)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)