long QT syndrome 8
Information
- Disease name
- long QT syndrome 8
- Disease ID
- DOID:0110649
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/34079780, url:https\://pubmed.ncbi.nlm.nih.gov/37132248/, url:https\://www.omim.org/MIM\:618447]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2843
- Cross Reference ID (Disease Ontology)
- MIM:618447
- Exact Synonym (Disease Ontology)
- LQT8