MAD1L1
mitotic arrest deficient 1 like 1
Summary
MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Known Variants130 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs748891291 | 7:1,855,710 | G/A | — | uncertain significance |
| rs377113510 | 7:1,855,714 | C/T | — | uncertain significance |
| rs754019446 | 7:1,855,735 | C/T | — | uncertain significance |
| rs201541833 | 7:1,855,780 | G/A | — | uncertain significance |
| rs377575668 | 7:1,855,832 | T/C | — | likely benign |
| rs374595397 | 7:1,855,874 | A/G | — | likely benign |
| rs11764779 | 7:1,858,529 | A/G | regulatory region variant | — |
| rs10265212 | 7:1,860,733 | G/T | — | — |
| rs13239969 | 7:1,862,404 | C/G | intron variant | — |
| rs62434668 | 7:1,866,901 | G/A | regulatory region variant | — |
| rs11770600 | 7:1,867,179 | G/C | intron variant | — |
| rs12537430 | 7:1,868,761 | A/G | intron variant | — |
| rs6948707 | 7:1,870,794 | T/A | — | — |
| rs10268294 | 7:1,873,406 | C/A | upstream gene variant | — |
| rs6460944 | 7:1,876,199 | C/T | upstream gene variant | — |
| rs6948403 | 7:1,876,768 | A/G | upstream gene variant | — |
| rs6965935 | 7:1,876,895 | G/A | upstream gene variant | — |
| rs4721096 | 7:1,877,311 | T/C | upstream gene variant | — |
| rs3889573 | 7:1,878,377 | A/T | missense variant | — |
| rs1078112 | 7:1,878,453 | T/A | missense variant | — |
| rs62435124 | 7:1,879,188 | A/G | downstream gene variant | — |
| rs58673065 | 7:1,885,600 | A/G | upstream gene variant | — |
| rs6952808 | 7:1,886,535 | G/A | — | — |
| rs11766944 | 7:1,888,051 | G/A | upstream gene variant | — |
| rs62435159 | 7:1,911,281 | G/C | — | — |
| rs4721135 | 7:1,912,222 | A/G | intron variant | — |
| rs60238952 | 7:1,914,350 | A/C | — | — |
| rs10950415 | 7:1,914,477 | A/C | — | — |
| rs7787341 | 7:1,914,997 | G/A | — | — |
| rs10275045 | 7:1,920,826 | C/T | intron variant | — |
| rs55956596 | 7:1,922,620 | C/G | — | — |
| rs11761270 | 7:1,923,695 | C/T | regulatory region variant | — |
| rs141503359 | 7:1,924,215 | C/T | intron variant | — |
| rs28970524 | 7:1,927,484 | C/G | — | — |
| rs4386875 | 7:1,928,020 | G/A | — | — |
| rs202247127 | 7:1,937,837 | T/C | — | uncertain significance |
| rs1361331540 | 7:1,937,839 | G/C | — | uncertain significance |
| rs61736815 | 7:1,937,875 | C/T | — | benign |
| rs779421821 | 7:1,937,876 | G/C | — | uncertain significance |
| rs753461846 | 7:1,937,885 | C/A | — | uncertain significance |
| rs376435341 | 7:1,937,886 | G/A | — | uncertain significance |
| rs121908981 | 7:1,937,887 | G/C | stop gained | pathogenic |
| rs1341891692 | 7:1,937,952 | C/A | — | pathogenic |
| rs764731139 | 7:1,937,954 | T/C | — | uncertain significance |
| rs200433567 | 7:1,938,000 | C/T | — | uncertain significance |
| rs28393635 | 7:1,943,547 | C/A | intron variant | — |
| rs371233761 | 7:1,943,668 | T/A | — | — |
| rs527510716 | 7:1,944,537 | G/C | — | — |
| rs377694807 | 7:1,944,896 | C/T | — | — |
| rs13242597 | 7:1,947,392 | A/C | intron variant | — |
| rs4332037 | 7:1,950,809 | C/T | intron variant | — |
| rs73050128 | 7:1,961,882 | C/A | intron variant | — |
| rs12699477 | 7:1,968,953 | T/C | intron variant | — |
| rs62442913 | 7:1,970,649 | G/C | — | — |
| rs373139029 | 7:1,976,340 | G/A | — | uncertain significance |
| rs756134237 | 7:1,976,380 | C/G | — | uncertain significance |
| rs200811813 | 7:1,976,401 | C/T | — | uncertain significance |
| rs755012008 | 7:1,976,463 | C/A | — | uncertain significance |
| rs2483828117 | 7:1,976,484 | G/T | — | uncertain significance |
| rs62442919 | 7:1,978,384 | A/G | — | — |
| rs557580265 | 7:1,997,274 | C/T | — | uncertain significance |
| rs375360701 | 7:1,997,320 | G/A | — | uncertain significance |
| rs12666575 | 7:2,004,421 | C/T | intron variant | — |
| rs6461049 | 7:2,017,445 | C/T | intron variant | — |
| rs145044204 | 7:2,019,364 | C/T | intron variant | — |
| rs200532851 | 7:2,020,118 | A/G | — | uncertain significance |
| rs777130204 | 7:2,020,132 | G/A | — | likely benign |
| rs1780854880 | 7:2,020,164 | G/C | — | uncertain significance |
| rs12668848 | 7:2,020,995 | G/T | — | — |
| rs55790766 | 7:2,021,248 | C/G | — | — |
| rs57849703 | 7:2,022,777 | G/C | — | — |
| rs11764590 | 7:2,032,803 | C/T | intron variant | — |
| rs1403174 | 7:2,032,865 | A/T | intron variant | — |
| rs868754 | 7:2,033,780 | G/C | intron variant | — |
| rs59574136 | 7:2,036,460 | T/A | — | — |
| rs4721295 | 7:2,036,669 | T/G | intron variant | — |
| rs1107592 | 7:2,041,432 | A/C | — | — |
| rs776490151 | 7:2,041,720 | G/A | — | pathogenic |
| rs199940133 | 7:2,041,739 | G/A | — | likely benign |
| rs2008263 | 7:2,048,335 | A/C | — | — |
| rs62444881 | 7:2,052,318 | C/T | intron variant | — |
| rs1782447479 | 7:2,054,186 | T/A | — | uncertain significance |
| rs374160954 | 7:2,054,193 | T/C | — | uncertain significance |
| rs41273048 | 7:2,054,230 | C/T | — | likely benign |
| rs201218907 | 7:2,054,233 | C/T | — | benign |
| rs758630529 | 7:2,054,256 | T/C | — | uncertain significance |
| rs11762545 | 7:2,060,775 | C/G | — | — |
| rs11762636 | 7:2,061,111 | C/T | — | — |
| rs11763750 | 7:2,080,114 | G/A | intron variant | — |
| rs55770986 | 7:2,087,823 | T/C | intron variant | — |
| rs62444917 | 7:2,107,262 | A/C | intron variant | — |
| rs17132130 | 7:2,108,036 | G/C | intron variant | — |
| rs201944036 | 7:2,108,864 | G/A | — | uncertain significance |
| rs2533879563 | 7:2,108,936 | C/G | — | uncertain significance |
| rs376951121 | 7:2,108,973 | G/A | — | likely benign |
| rs62444919 | 7:2,109,499 | C/T | intron variant | — |
| rs11772627 | 7:2,109,821 | G/A | — | — |
| rs3800872 | 7:2,110,272 | C/G | regulatory region variant | — |
| rs373789515 | 7:2,141,956 | G/C | — | — |
| rs3778977 | 7:2,159,746 | C/T | regulatory region variant | — |
Showing 100 of 130 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.