COL2A1
HGNC:2200 · SaudiVarKB evidence summary derived from retained literature mentions.
4Gene mentions
4Publications
3Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in COL2A1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| hearing loss | HP:0000365 | 1 | 1 |
| cleft lip and palate | — | 1 | 1 |
Linked variants
Variants normalized to COL2A1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.3642delT | c.3642delT | 1 | 1 |
| c.1357G>A | c.1357G>A | 1 | 1 |
| p.G453S | p.G453S | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Not specified | — | — | 1 |
| Not specified | — | 12 | 1 |
Supporting publications
4 records- 2026Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.The American journal of case reportsPubMed ↗
- 2021Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.Molecular genetics & genomic medicinePubMed ↗
- 2020Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.European journal of medical geneticsPubMed ↗
- 2019A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.Genetic testing and molecular biomarkersPubMed ↗