G948D (p.Gly948Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G948D (p.Gly948Asp) 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 Connective tissue disorder. The record also includes published literature and structural context.
G948D (p.Gly948Asp) variant details
- p.Gly948Asp
- UniProt VAR 017646
- Likely pathogenic
- Connective tissue disorder
- Missense
- ClinVar: Likely pathogenic (Connective tissue disorder)
- EBI: Pathogenic (in ACG2)
- UniProt: Pathogenic (in ACG2)
- Structural context available
- Cited in: Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. (PMID 10797431)
- Cited in: Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients… (PMID 10745044)