MLC1
modulator of VRAC current 1
Summary
The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants551 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886057618 | 22:50,497,845 | C/T | — | uncertain significance |
| rs886057619 | 22:50,497,849 | A/C | — | uncertain significance |
| rs1215334314 | 22:50,497,937 | T/C | — | uncertain significance |
| rs952288689 | 22:50,497,944 | G/C | — | uncertain significance |
| rs540245725 | 22:50,497,961 | C/T | — | likely benign |
| rs372824215 | 22:50,497,963 | C/T | — | uncertain significance |
| rs41283487 | 22:50,498,049 | G/C | — | benign |
| rs2061524291 | 22:50,498,061 | T/C | — | uncertain significance |
| rs903750326 | 22:50,498,078 | C/T | — | uncertain significance |
| rs552491568 | 22:50,498,138 | C/T | — | uncertain significance |
| rs11703598 | 22:50,498,176 | C/T | — | benign |
| rs992340649 | 22:50,498,225 | C/T | — | uncertain significance |
| rs551218638 | 22:50,498,231 | G/A | — | uncertain significance |
| rs80312581 | 22:50,498,239 | C/G | — | benign |
| rs41283489 | 22:50,498,248 | A/C | — | benign |
| rs188855026 | 22:50,498,323 | A/C | — | likely benign |
| rs35730155 | 22:50,498,389 | C/A | — | benign |
| rs144067372 | 22:50,498,513 | G/A | — | likely benign |
| rs886057620 | 22:50,498,519 | T/C | — | uncertain significance |
| rs1185528208 | 22:50,498,614 | T/C | — | uncertain significance |
| rs2294382 | 22:50,498,678 | C/T | — | benign |
| rs149073568 | 22:50,498,691 | T/C | — | benign |
| rs575620990 | 22:50,498,706 | C/T | — | uncertain significance |
| rs1013861019 | 22:50,498,739 | G/T | — | uncertain significance |
| rs750057200 | 22:50,498,813 | C/A | — | uncertain significance |
| rs2294384 | 22:50,498,869 | G/A | — | benign |
| rs9628320 | 22:50,498,885 | A/G | — | benign |
| rs909268509 | 22:50,498,897 | C/G | — | uncertain significance |
| rs1386718894 | 22:50,499,016 | A/G | — | uncertain significance |
| rs11704648 | 22:50,499,021 | A/C | — | benign |
| rs117474715 | 22:50,499,042 | C/G | — | benign |
| rs1009356347 | 22:50,499,048 | C/G | — | uncertain significance |
| rs41283491 | 22:50,499,075 | G/A | — | benign |
| rs534183690 | 22:50,499,126 | A/G | — | uncertain significance |
| rs983942994 | 22:50,499,132 | G/C | — | uncertain significance |
| rs1601954641 | 22:50,499,149 | A/C | — | uncertain significance |
| rs41283492 | 22:50,499,152 | T/G | — | likely benign |
| rs949363571 | 22:50,499,183 | G/A | — | uncertain significance |
| rs2061545213 | 22:50,499,185 | C/G | — | uncertain significance |
| rs4838879 | 22:50,499,188 | T/C | — | uncertain significance |
| rs886057621 | 22:50,499,206 | G/T | — | uncertain significance |
| rs886057622 | 22:50,499,224 | C/T | — | uncertain significance |
| rs4838880 | 22:50,499,239 | T/C | — | benign |
| rs528927093 | 22:50,499,282 | C/T | — | uncertain significance |
| rs1162468737 | 22:50,499,295 | G/A | — | uncertain significance |
| rs1028022150 | 22:50,499,299 | G/A | — | uncertain significance |
| rs376823805 | 22:50,499,351 | C/G | — | benign |
| rs139148001 | 22:50,499,352 | G/A | — | likely benign |
| rs886057623 | 22:50,499,385 | C/T | — | uncertain significance |
| rs886057624 | 22:50,499,405 | G/A | — | uncertain significance |
| rs2061549471 | 22:50,499,411 | G/T | — | uncertain significance |
| rs527883161 | 22:50,499,432 | C/T | — | uncertain significance |
| rs367816647 | 22:50,499,440 | G/A | — | benign |
| rs538718275 | 22:50,499,463 | C/T | — | uncertain significance |
| rs116535312 | 22:50,499,479 | A/G | — | uncertain significance |
| rs769075736 | 22:50,499,551 | C/G | — | uncertain significance |
| rs2061552087 | 22:50,499,561 | A/C | — | uncertain significance |
| rs114598884 | 22:50,499,581 | G/A | — | likely benign |
| rs41283494 | 22:50,499,582 | T/C | — | uncertain significance |
| rs12484303 | 22:50,499,598 | G/A | — | likely benign |
| rs115770001 | 22:50,499,673 | G/A | — | benign |
| rs769484521 | 22:50,499,675 | G/A | — | uncertain significance |
| rs1021399359 | 22:50,499,745 | C/T | — | uncertain significance |
| rs148160537 | 22:50,499,797 | G/A | — | likely benign |
| rs2061556620 | 22:50,499,809 | T/C | — | uncertain significance |
| rs41283496 | 22:50,499,957 | A/G | — | benign |
| rs137919 | 22:50,499,964 | C/T | — | benign |
| rs2072873 | 22:50,499,967 | T/C | — | benign |
| rs111797969 | 22:50,499,994 | G/A | — | uncertain significance |
| rs142027672 | 22:50,500,000 | C/T | — | benign |
| rs542817231 | 22:50,500,003 | G/A | — | uncertain significance |
| rs1555962581 | 22:50,500,014 | A/G | — | likely pathogenic |
| rs2061559449 | 22:50,500,018 | G/A | — | likely benign |
| rs774935114 | 22:50,500,027 | C/A | — | likely benign |
| rs1205871716 | 22:50,500,029 | C/T | — | uncertain significance |
| rs1269494985 | 22:50,500,033 | G/A | — | conflicting classifications of pathogenicity |
| rs985607951 | 22:50,500,034 | A/C | — | uncertain significance |
| rs200273593 | 22:50,500,035 | C/T | — | uncertain significance |
| rs760778847 | 22:50,500,036 | G/A | — | likely benign |
| rs2518434365 | 22:50,500,048 | T/C | — | likely benign |
| rs2518434423 | 22:50,500,057 | G/A | — | likely benign |
| rs779971307 | 22:50,500,059 | C/T | — | uncertain significance |
| rs751390945 | 22:50,500,060 | G/A | — | benign |
| rs373419167 | 22:50,500,065 | C/T | — | uncertain significance |
| rs2518434515 | 22:50,500,066 | C/T | — | likely benign |
| rs780525099 | 22:50,500,070 | A/G | — | uncertain significance |
| rs747871225 | 22:50,500,071 | G/A | — | likely benign |
| rs1270153559 | 22:50,500,075 | G/A | — | likely benign |
| rs2146739010 | 22:50,500,084 | C/T | — | likely benign |
| rs2518434727 | 22:50,500,088 | T/C | — | likely pathogenic |
| rs2146739158 | 22:50,500,092 | A/G | — | likely benign |
| rs749679723 | 22:50,500,094 | C/T | — | likely benign |
| rs569220214 | 22:50,500,095 | G/A | — | conflicting classifications of pathogenicity |
| rs2518434877 | 22:50,500,103 | A/T | — | likely benign |
| rs75152548 | 22:50,500,263 | T/C | — | benign |
| rs4990416 | 22:50,502,171 | T/C | — | benign |
| rs4600768 | 22:50,502,215 | A/G | — | benign |
| rs12483792 | 22:50,502,285 | T/C | — | benign |
| rs13053139 | 22:50,502,301 | A/G | — | benign |
| rs114282486 | 22:50,502,436 | T/C | — | benign |
Showing 100 of 551 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.