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catecholaminergic polymorphic ventricular tachycardia 2
Summary
- Synonym
-
- CVPT2
- Definition
- A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13.
- Super Class
- catecholaminergic polymorphic ventricular tachycardia
External Links
- Disease Ontology
- DOID:0060676
- Mondo Disease Ontology
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14958 | Calsequestrin-2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O09161 | Calsequestrin-2 |
