rs1292304386

This variant is located in the CLIC2 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

not specified

About CLIC2

This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. This protein plays a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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