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long QT syndrome 8
Summary
- Synonym
-
- LQT8
- Definition
- A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.
- Super Class
- autosomal dominant disease long QT syndrome
External Links
- Disease Ontology
- DOID:0110649
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 34950 | Ca-alpha1D | Ca[2+]-channel protein alpha[[1]] subunit D |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 100462911 | cacna1c.S | calcium channel, voltage-dependent, L type, alpha 1C subunit S homeolog | Xenopus laevis (African clawed frog) | |
| 100488055 | cacna1c | calcium channel, voltage-dependent, L type, alpha 1C subunit | Xenopus tropicalis (tropical clawed frog) |
