CLIC2
chloride intracellular channel 2
Summary
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]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs559165 | X:154,507,173 | T/G | — | benign |
| rs367873692 | X:154,507,219 | G/A | — | likely benign |
| rs2124144368 | X:154,507,230 | C/T | — | uncertain significance |
| rs782118673 | X:154,507,256 | T/C | — | uncertain significance |
| rs1032630286 | X:154,507,295 | C/T | — | conflicting classifications of pathogenicity |
| rs2074909249 | X:154,508,432 | A/G | — | uncertain significance |
| rs2074909269 | X:154,508,446 | T/C | — | uncertain significance |
| rs782609954 | X:154,508,504 | T/C | — | uncertain significance |
| rs782369666 | X:154,508,512 | T/C | — | uncertain significance |
| rs41304992 | X:154,508,542 | G/C | — | likely benign |
| rs1260930011 | X:154,508,565 | G/T | — | uncertain significance |
| rs1557316156 | X:154,508,566 | T/C | — | uncertain significance |
| rs782037891 | X:154,508,586 | C/T | — | likely benign |
| rs544582 | X:154,508,954 | A/G | — | benign |
| rs782547045 | X:154,509,259 | G/T | — | uncertain significance |
| rs2124147316 | X:154,509,291 | A/C | — | uncertain significance |
| rs781981574 | X:154,509,300 | A/G | — | likely benign |
| rs398122917 | X:154,509,348 | G/C | missense variant | uncertain significance |
| rs781930992 | X:154,523,305 | G/C | — | — |
| rs2520421141 | X:154,528,140 | A/T | — | uncertain significance |
| rs1557318661 | X:154,528,220 | C/G | — | uncertain significance |
| rs1292304386 | X:154,528,240 | T/A | — | likely benign |
| rs1446453794 | X:154,528,413 | G/A | — | uncertain significance |
| rs1557318713 | X:154,528,441 | C/G | — | uncertain significance |
| rs1602940915 | X:154,528,454 | C/A | — | uncertain significance |
| rs782783664 | X:154,528,464 | A/C | — | benign |
| rs151113194 | X:154,562,897 | C/T | downstream gene variant | — |
| rs7050330 | X:154,563,670 | G/A | — | likely benign |
| rs782061657 | X:154,563,718 | C/T | — | conflicting classifications of pathogenicity |
| rs1557323108 | X:154,563,723 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.