LLGL1
LLGL scribble cell polarity complex component 1
Summary
This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Known Variants80 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2142519456 | 17:18,129,041 | C/T | — | likely benign |
| rs896304706 | 17:18,129,076 | A/G | — | uncertain significance |
| rs75657839 | 17:18,129,887 | C/G | intron variant | — |
| rs115967277 | 17:18,133,277 | A/G | — | benign |
| rs376398557 | 17:18,133,288 | G/A | — | uncertain significance |
| rs141705015 | 17:18,133,304 | C/T | — | uncertain significance |
| rs940190734 | 17:18,135,885 | G/A | — | uncertain significance |
| rs1231129089 | 17:18,136,037 | G/T | — | uncertain significance |
| rs113943896 | 17:18,136,099 | C/T | — | benign |
| rs149627877 | 17:18,137,097 | C/T | — | uncertain significance |
| rs144361427 | 17:18,137,122 | G/A | — | benign |
| rs1597865445 | 17:18,137,204 | A/G | — | uncertain significance |
| rs2047626888 | 17:18,137,234 | G/T | — | uncertain significance |
| rs752613461 | 17:18,137,240 | G/C | — | uncertain significance |
| rs755966163 | 17:18,137,247 | G/A | — | uncertain significance |
| rs115399906 | 17:18,137,328 | G/A | — | benign |
| rs756991504 | 17:18,137,337 | G/A | — | uncertain significance |
| rs2047634579 | 17:18,137,461 | G/A | — | uncertain significance |
| rs1444188863 | 17:18,137,470 | A/G | — | likely benign |
| rs2545421676 | 17:18,137,624 | C/G | — | uncertain significance |
| rs572067853 | 17:18,137,690 | C/G | — | uncertain significance |
| rs914359986 | 17:18,138,001 | C/T | — | uncertain significance |
| rs78750981 | 17:18,138,145 | G/A | — | benign |
| rs780930152 | 17:18,138,197 | A/G | — | uncertain significance |
| rs1236793920 | 17:18,138,206 | G/A | — | uncertain significance |
| rs144290841 | 17:18,138,525 | A/G | — | uncertain significance |
| rs8066959 | 17:18,138,557 | C/T | — | likely benign |
| rs151016611 | 17:18,138,596 | G/C | — | uncertain significance |
| rs529354628 | 17:18,139,937 | G/A | — | uncertain significance |
| rs149027239 | 17:18,139,980 | A/G | — | uncertain significance |
| rs1063682 | 17:18,140,024 | G/A | — | uncertain significance |
| rs1389190696 | 17:18,140,189 | G/C | — | uncertain significance |
| rs200183472 | 17:18,140,204 | C/T | — | uncertain significance |
| rs146378867 | 17:18,140,221 | G/A | — | uncertain significance |
| rs373780909 | 17:18,140,847 | C/T | — | uncertain significance |
| rs763738289 | 17:18,140,870 | C/T | — | uncertain significance |
| rs377512205 | 17:18,140,871 | G/A | — | uncertain significance |
| rs377198347 | 17:18,140,912 | C/T | — | uncertain significance |
| rs150635970 | 17:18,140,989 | C/T | — | benign |
| rs139750751 | 17:18,140,990 | G/A | — | uncertain significance |
| rs2545444717 | 17:18,141,038 | C/G | — | uncertain significance |
| rs144655159 | 17:18,141,066 | G/A | — | uncertain significance |
| rs140611231 | 17:18,141,081 | T/C | — | uncertain significance |
| rs770323651 | 17:18,141,422 | C/T | — | uncertain significance |
| rs770208654 | 17:18,141,473 | G/A | — | uncertain significance |
| rs531828914 | 17:18,141,479 | G/A | — | uncertain significance |
| rs374663368 | 17:18,141,488 | G/A | — | uncertain significance |
| rs111836247 | 17:18,141,807 | G/A | — | benign |
| rs150963270 | 17:18,141,814 | C/G | — | uncertain significance |
| rs374576025 | 17:18,141,818 | G/A | — | uncertain significance |
| rs747293622 | 17:18,141,824 | A/G | — | likely benign |
| rs150088817 | 17:18,141,876 | C/T | — | uncertain significance |
| rs773136651 | 17:18,141,897 | A/G | — | uncertain significance |
| rs35062334 | 17:18,143,440 | G/A | downstream gene variant | — |
| rs768385606 | 17:18,144,003 | C/T | — | uncertain significance |
| rs112697370 | 17:18,144,013 | C/T | — | benign |
| rs200044915 | 17:18,144,014 | G/C | — | uncertain significance |
| rs371253354 | 17:18,144,068 | G/T | — | uncertain significance |
| rs57956221 | 17:18,144,097 | C/G | — | benign |
| rs575121495 | 17:18,144,126 | C/T | — | uncertain significance |
| rs777155560 | 17:18,144,168 | C/T | — | uncertain significance |
| rs76973089 | 17:18,144,172 | T/C | — | benign |
| rs2605138 | 17:18,144,683 | T/C | regulatory region variant | — |
| rs757983633 | 17:18,144,820 | A/C | — | uncertain significance |
| rs139736306 | 17:18,144,834 | C/T | — | uncertain significance |
| rs201514093 | 17:18,144,843 | G/A | — | uncertain significance |
| rs149935184 | 17:18,144,853 | C/A | — | uncertain significance |
| rs200261115 | 17:18,144,961 | A/G | — | uncertain significance |
| rs374728959 | 17:18,144,976 | G/A | — | uncertain significance |
| rs781433997 | 17:18,145,008 | G/A | — | uncertain significance |
| rs145213300 | 17:18,145,295 | G/A | — | uncertain significance |
| rs2545468304 | 17:18,145,497 | C/T | — | uncertain significance |
| rs780960319 | 17:18,145,520 | G/A | — | uncertain significance |
| rs368197421 | 17:18,145,529 | A/G | — | likely benign |
| rs762080475 | 17:18,145,542 | C/T | — | uncertain significance |
| rs149387516 | 17:18,145,552 | C/A | — | uncertain significance |
| rs774490299 | 17:18,145,866 | G/A | — | uncertain significance |
| rs764049583 | 17:18,145,908 | G/A | — | uncertain significance |
| rs374758088 | 17:18,145,911 | G/A | — | uncertain significance |
| rs28523978 | 17:18,147,239 | C/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.