p.Glu684Lys
p.Glu684Lys · SaudiVarKB evidence summary derived from retained literature mentions.
2Variant mentions
2Publications
2Associated gene records
1Associated phenotype records
Associated gene records
Co-mentioned in the same publicationsAssociated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Ehlers-Danlos syndrome | — | 2 | 2 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 2 | 2 |
Supporting publications
2 records- 2026A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.GenesPubMed ↗
- 2020Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.Global medical geneticsPubMed ↗