G1206A (p.Gly1206Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
G1206A (p.Gly1206Ala) 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 Type 2 collagenopathy. The record also includes published literature and structural context.
G1206A (p.Gly1206Ala) variant details
- p.Gly1206Ala
- rs2540100894
- ClinGen CA384537183
- ClinVar RCV002471810
- Pathogenic
- Type 2 collagenopathy
- Missense
- ClinVar: Pathogenic (Type 2 collagenopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)