G1029C (p.Gly1029Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
G1029C (p.Gly1029Cys) 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; Avascular necrosis of femoral head, primary, 1; Multipl. The record also includes published literature and structural context.
G1029C (p.Gly1029Cys) variant details
- p.Gly1029Cys
- rs2540110405
- ClinGen CA384540660
- ClinVar RCV003701943
- ClinVar RCV005013107
- Pathogenic/Likely pathogenic
- Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multipl
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Achondrogenesis type II; Avascular necrosis of femoral head, pri)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)
- Cited in: Stickler Syndrome. (PMID 20301479)