G213D (p.Gly213Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G213D (p.Gly213Asp) 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 Platyspondylic dysplasia, Torrance type. The record also includes published literature and structural context.
G213D (p.Gly213Asp) variant details
- p.Gly213Asp
- rs2540175331
- ClinGen CA384523881
- ClinVar RCV003153183
- Likely pathogenic
- Platyspondylic dysplasia, Torrance type
- Missense
- ClinVar: Likely pathogenic (Platyspondylic dysplasia, Torrance type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)