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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60502 | Protein O-GlcNAcase | |
| P54646 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 |
