G861R (p.Gly861Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G861R (p.Gly861Arg) 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 Type 2 collagenopathy; Spondyloperipheral dysplasia. The record also includes published literature and structural context.
G861R (p.Gly861Arg) variant details
- p.Gly861Arg
- rs2540122331
- ClinGen CA384544422
- ClinVar RCV002287215
- ClinVar RCV005401955
- Likely pathogenic
- Type 2 collagenopathy; Spondyloperipheral dysplasia
- Missense
- ClinVar: Likely pathogenic (Type 2 collagenopathy; Spondyloperipheral dysplasia)
- EBI: Likely pathogenic (in SMDALG)
- UniProt: Likely pathogenic (in SMDALG)
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)