G1095D (p.Gly1095Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G1095D (p.Gly1095Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of COL2A1-related disorder; Platyspondylic dysplasia, Torrance type; not provided. The record also includes structural context.
G1095D (p.Gly1095Asp) variant details
- p.Gly1095Asp
- NCI-TCGA Cosmic COSV6153
- cosmic curated COSV61530
- Likely pathogenic
- COL2A1-related disorder; Platyspondylic dysplasia, Torrance type; not provided
- Missense
- ClinVar: Likely pathogenic (COL2A1-related disorder; Platyspondylic dysplasia, Torrance type)
- UniProt: Likely pathogenic
- Structural context available