rs886045159
This variant is located in the CASQ2 gene.
▶ClinVar annotation
Catecholaminergic polymorphic ventricular tachycardia 2
View on ClinVar →About CASQ2
The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]
View all CASQ2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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