LOX
lysyl oxidase
Summary
This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]
Known Variants392 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17352251 | 5:121,402,284 | T/C | — | benign |
| rs1345801845 | 5:121,402,438 | C/G | — | uncertain significance |
| rs966311122 | 5:121,402,459 | C/T | — | likely benign |
| rs10053942 | 5:121,402,597 | C/T | — | benign |
| rs116663388 | 5:121,402,771 | G/T | — | likely benign |
| rs778525971 | 5:121,405,656 | G/A | — | benign |
| rs2532900757 | 5:121,405,743 | C/T | — | uncertain significance |
| rs2532900761 | 5:121,405,744 | T/A | — | uncertain significance |
| rs1233555524 | 5:121,405,747 | C/T | — | uncertain significance |
| rs770316240 | 5:121,405,748 | G/A | — | uncertain significance |
| rs1403742634 | 5:121,405,753 | A/G | — | likely benign |
| rs2532900813 | 5:121,405,759 | G/A | — | likely benign |
| rs1392933477 | 5:121,405,762 | G/A | — | likely benign |
| rs186028768 | 5:121,405,763 | C/T | — | uncertain significance |
| rs143848216 | 5:121,405,768 | G/A | — | likely benign |
| rs529331343 | 5:121,405,770 | C/T | — | uncertain significance |
| rs1197967023 | 5:121,405,771 | A/C | — | uncertain significance |
| rs765126342 | 5:121,405,773 | A/G | — | conflicting classifications of pathogenicity |
| rs61749623 | 5:121,405,774 | C/T | — | likely benign |
| rs1478649419 | 5:121,405,775 | G/A | — | uncertain significance |
| rs764756171 | 5:121,405,776 | C/T | — | uncertain significance |
| rs2532900904 | 5:121,405,780 | A/G | — | likely benign |
| rs554322205 | 5:121,405,788 | T/C | — | uncertain significance |
| rs1463695782 | 5:121,405,793 | C/T | — | uncertain significance |
| rs749796906 | 5:121,405,805 | C/T | — | conflicting classifications of pathogenicity |
| rs768819499 | 5:121,405,806 | G/A | — | uncertain significance |
| rs2532900983 | 5:121,405,809 | C/T | — | uncertain significance |
| rs779159018 | 5:121,405,813 | A/G | — | likely benign |
| rs1338346958 | 5:121,405,819 | G/A | — | likely benign |
| rs2532901009 | 5:121,405,820 | G/A | — | uncertain significance |
| rs2532901107 | 5:121,405,826 | T/G | — | uncertain significance |
| rs2532901146 | 5:121,405,835 | G/A | — | uncertain significance |
| rs1561417251 | 5:121,405,836 | G/C | — | uncertain significance |
| rs2532901168 | 5:121,405,839 | C/T | — | uncertain significance |
| rs375654723 | 5:121,405,840 | C/T | — | likely benign |
| rs1339063541 | 5:121,405,844 | T/A | — | uncertain significance |
| rs1754408984 | 5:121,405,845 | A/G | — | uncertain significance |
| rs35146783 | 5:121,405,855 | T/C | — | likely benign |
| rs2532901225 | 5:121,405,858 | A/G | — | likely benign |
| rs2532901248 | 5:121,405,863 | C/G | — | conflicting classifications of pathogenicity |
| rs1434917482 | 5:121,405,868 | G/A | — | likely benign |
| rs2152587164 | 5:121,405,873 | A/T | — | uncertain significance |
| rs371936498 | 5:121,405,878 | G/C | — | likely benign |
| rs759412397 | 5:121,405,879 | A/G | — | likely benign |
| rs1373437273 | 5:121,405,881 | T/C | — | likely benign |
| rs774984747 | 5:121,405,882 | T/A | — | likely benign |
| rs2303656 | 5:121,405,976 | G/T | intron variant | — |
| rs770708362 | 5:121,406,182 | T/C | — | likely benign |
| rs1332606387 | 5:121,406,195 | G/A | — | likely benign |
| rs1561417505 | 5:121,406,197 | T/G | — | uncertain significance |
| rs2532902083 | 5:121,406,201 | G/C | — | uncertain significance |
| rs745738565 | 5:121,406,204 | T/C | — | likely benign |
| rs1754418435 | 5:121,406,209 | G/C | — | uncertain significance |
| rs1380086603 | 5:121,406,215 | C/T | — | uncertain significance |
| rs775459586 | 5:121,406,218 | C/T | — | uncertain significance |
| rs762424348 | 5:121,406,223 | A/G | — | uncertain significance |
| rs2532902117 | 5:121,406,224 | T/C | — | uncertain significance |
| rs1754419222 | 5:121,406,229 | A/G | — | uncertain significance |
| rs1399121024 | 5:121,406,230 | T/C | — | uncertain significance |
| rs377582702 | 5:121,406,240 | G/T | — | uncertain significance |
| rs1754419594 | 5:121,406,244 | A/G | — | uncertain significance |
| rs998926625 | 5:121,406,246 | G/A | — | likely benign |
| rs1754419854 | 5:121,406,255 | A/G | — | likely benign |
| rs2152587471 | 5:121,406,258 | G/T | — | likely benign |
| rs1387507346 | 5:121,406,264 | A/C | — | pathogenic |
| rs2532902247 | 5:121,406,269 | A/G | — | uncertain significance |
| rs766710805 | 5:121,406,273 | A/G | — | likely benign |
| rs1561417568 | 5:121,406,276 | A/T | missense variant | pathogenic |
| rs754162352 | 5:121,406,277 | C/T | — | likely pathogenic |
| rs2532902276 | 5:121,406,287 | A/C | — | uncertain significance |
| rs10519694 | 5:121,407,219 | C/T | intron variant | — |
| rs2956540 | 5:121,409,180 | G/A | — | — |
| rs3792803 | 5:121,409,483 | A/G | — | benign |
| rs2532908102 | 5:121,409,699 | C/A | — | likely benign |
| rs763804503 | 5:121,409,704 | A/G | — | uncertain significance |
| rs1213452826 | 5:121,409,707 | C/T | — | pathogenic |
| rs2152589500 | 5:121,409,708 | C/T | — | conflicting classifications of pathogenicity |
| rs2532908125 | 5:121,409,709 | T/C | — | uncertain significance |
| rs535032095 | 5:121,409,713 | T/C | — | uncertain significance |
| rs1305869804 | 5:121,409,715 | T/A | — | uncertain significance |
| rs2152589503 | 5:121,409,719 | C/T | — | uncertain significance |
| rs1436353084 | 5:121,409,722 | T/G | — | likely pathogenic |
| rs1748578770 | 5:121,409,733 | C/T | — | uncertain significance |
| rs1754538399 | 5:121,409,734 | G/A | — | pathogenic |
| rs757415508 | 5:121,409,736 | C/T | — | uncertain significance |
| rs751459592 | 5:121,409,744 | G/A | — | likely benign |
| rs755859651 | 5:121,409,757 | G/T | — | uncertain significance |
| rs2532908263 | 5:121,409,762 | G/C | — | uncertain significance |
| rs111890552 | 5:121,409,771 | A/G | — | likely benign |
| rs2532908311 | 5:121,409,779 | T/G | — | uncertain significance |
| rs2532908336 | 5:121,409,784 | T/G | — | uncertain significance |
| rs747602660 | 5:121,409,807 | C/T | — | likely benign |
| rs1754541782 | 5:121,409,811 | G/C | — | uncertain significance |
| rs547011629 | 5:121,409,814 | T/C | — | conflicting classifications of pathogenicity |
| rs34226651 | 5:121,409,819 | A/C | — | likely benign |
| rs1212480895 | 5:121,409,820 | T/A | — | uncertain significance |
| rs201494622 | 5:121,409,825 | C/T | — | likely benign |
| rs2152589570 | 5:121,409,826 | A/G | — | uncertain significance |
| rs368947781 | 5:121,409,827 | G/A | — | likely benign |
| rs111837818 | 5:121,409,828 | G/T | — | uncertain significance |
Showing 100 of 392 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.