rs2464835386

This variant is located in the CASQ2 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Catecholaminergic polymorphic ventricular tachycardia 1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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