SEPTIN9
septin 9
Summary
This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]
Known Variants585 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7407009 | 17:75,277,227 | G/T | — | benign |
| rs4789430 | 17:75,277,430 | C/G | — | benign |
| rs564233160 | 17:75,277,433 | T/G | — | benign |
| rs373918368 | 17:75,277,468 | G/T | — | benign |
| rs144505525 | 17:75,277,580 | C/T | — | likely benign |
| rs8070026 | 17:75,277,611 | A/C | — | benign |
| rs116581271 | 17:75,277,725 | C/T | — | likely benign |
| rs183216271 | 17:75,277,889 | C/G | — | likely benign |
| rs146166234 | 17:75,277,956 | G/A | — | likely benign |
| rs8070090 | 17:75,277,957 | C/G | — | likely benign |
| rs1598462622 | 17:75,282,465 | C/A | — | uncertain significance |
| rs142910755 | 17:75,302,944 | G/T | — | likely benign |
| rs73997467 | 17:75,303,102 | G/A | — | benign |
| rs138141924 | 17:75,303,158 | T/C | — | likely benign |
| rs754713968 | 17:75,303,229 | C/T | — | uncertain significance |
| rs199618012 | 17:75,303,231 | C/T | — | uncertain significance |
| rs770477348 | 17:75,303,235 | C/T | — | uncertain significance |
| rs201899859 | 17:75,303,250 | T/A | — | uncertain significance |
| rs766496203 | 17:75,303,253 | G/A | — | uncertain significance |
| rs759789127 | 17:75,303,256 | G/C | — | uncertain significance |
| rs4789439 | 17:75,303,298 | T/C | — | benign |
| rs72880527 | 17:75,303,502 | G/A | — | benign |
| rs115382822 | 17:75,303,515 | G/C | — | likely benign |
| rs4788985 | 17:75,313,335 | A/C | — | — |
| rs9889391 | 17:75,315,299 | T/C | — | benign |
| rs563109617 | 17:75,315,412 | T/C | — | likely benign |
| rs142598684 | 17:75,315,487 | G/C | — | likely benign |
| rs116050287 | 17:75,315,585 | G/A | — | likely benign |
| rs11871408 | 17:75,315,588 | G/A | — | likely benign |
| rs3809703 | 17:75,315,590 | C/T | — | likely benign |
| rs989073256 | 17:75,315,600 | C/G | — | uncertain significance |
| rs534426016 | 17:75,315,629 | G/C | — | uncertain significance |
| rs370236963 | 17:75,315,641 | T/G | — | benign |
| rs765972765 | 17:75,315,686 | G/A | — | uncertain significance |
| rs1376331809 | 17:75,315,995 | G/A | — | uncertain significance |
| rs138208028 | 17:75,316,009 | G/T | — | benign |
| rs769442066 | 17:75,316,043 | G/A | — | conflicting classifications of pathogenicity |
| rs367749793 | 17:75,316,072 | G/A | — | uncertain significance |
| rs75147264 | 17:75,316,091 | C/T | — | benign |
| rs530024170 | 17:75,316,103 | C/T | — | benign |
| rs563964076 | 17:75,316,233 | C/T | — | uncertain significance |
| rs80338760 | 17:75,316,275 | G/C | — | pathogenic |
| rs140915871 | 17:75,316,328 | A/G | — | likely benign |
| rs1401399672 | 17:75,316,415 | A/G | — | uncertain significance |
| rs370646966 | 17:75,316,421 | C/G | — | uncertain significance |
| rs200814561 | 17:75,316,422 | G/A | — | uncertain significance |
| rs764261529 | 17:75,316,442 | G/A | — | likely benign |
| rs201079201 | 17:75,316,447 | C/G | — | benign |
| rs2509729710 | 17:75,316,449 | C/G | — | likely benign |
| rs368295986 | 17:75,316,450 | C/T | — | likely benign |
| rs138930673 | 17:75,316,455 | C/T | — | likely benign |
| rs3760143 | 17:75,316,497 | T/C | — | benign |
| rs57927100 | 17:75,317,300 | C/T | — | — |
| rs77946446 | 17:75,317,932 | C/T | regulatory region variant | — |
| rs9896100 | 17:75,330,210 | T/A | intron variant | — |
| rs567689672 | 17:75,351,214 | A/C | — | — |
| rs4789450 | 17:75,368,950 | C/T | — | likely benign |
| rs568226661 | 17:75,369,437 | G/C | — | likely benign |
| rs148740327 | 17:75,369,473 | T/C | — | likely benign |
| rs193055905 | 17:75,369,549 | C/T | — | likely benign |
| rs761602845 | 17:75,369,557 | C/T | — | benign |
| rs7217986 | 17:75,369,578 | T/C | — | benign |
| rs377135446 | 17:75,369,683 | C/G | — | likely benign |
| rs185570223 | 17:75,369,701 | T/C | — | likely benign |
| rs312824 | 17:75,371,267 | C/T | coding sequence variant | — |
| rs4789452 | 17:75,372,850 | G/C | coding sequence variant | — |
| rs34596832 | 17:75,373,170 | C/A | coding sequence variant | — |
| rs11659109 | 17:75,375,859 | C/G | — | — |
| rs11658815 | 17:75,375,881 | G/A | upstream gene variant | — |
| rs7222368 | 17:75,376,455 | C/T | upstream gene variant | — |
| rs103550 | 17:75,380,174 | G/C | regulatory region variant | — |
| rs2930275 | 17:75,381,393 | A/T | — | — |
| rs8064457 | 17:75,397,854 | T/C | — | likely benign |
| rs8082532 | 17:75,398,112 | C/T | — | likely benign |
| rs762895216 | 17:75,398,132 | A/G | — | likely benign |
| rs2509883275 | 17:75,398,134 | T/C | — | likely benign |
| rs962476744 | 17:75,398,155 | T/C | — | uncertain significance |
| rs2509883339 | 17:75,398,161 | G/A | — | uncertain significance |
| rs1227826233 | 17:75,398,162 | T/C | — | uncertain significance |
| rs546188962 | 17:75,398,163 | C/T | — | benign |
| rs1202122258 | 17:75,398,170 | G/A | — | uncertain significance |
| rs752352921 | 17:75,398,173 | G/A | — | uncertain significance |
| rs780472921 | 17:75,398,192 | C/G | — | uncertain significance |
| rs375294714 | 17:75,398,196 | C/G | — | likely benign |
| rs369426821 | 17:75,398,197 | C/T | — | uncertain significance |
| rs781163314 | 17:75,398,198 | G/A | — | uncertain significance |
| rs1219444115 | 17:75,398,202 | G/A | — | likely benign |
| rs2144098160 | 17:75,398,203 | G/T | — | uncertain significance |
| rs189537244 | 17:75,398,205 | C/G | — | benign |
| rs2509883522 | 17:75,398,208 | G/A | — | likely benign |
| rs549141429 | 17:75,398,210 | C/A | — | conflicting classifications of pathogenicity |
| rs749019982 | 17:75,398,212 | C/G | — | conflicting classifications of pathogenicity |
| rs1447337353 | 17:75,398,217 | A/G | — | likely benign |
| rs886053485 | 17:75,398,222 | G/A | — | uncertain significance |
| rs200161455 | 17:75,398,226 | C/G | — | likely benign |
| rs2509883592 | 17:75,398,230 | G/A | — | uncertain significance |
| rs1034935011 | 17:75,398,239 | T/C | — | uncertain significance |
| rs61744333 | 17:75,398,265 | C/T | — | likely benign |
| rs11537706 | 17:75,398,266 | G/A | — | uncertain significance |
| rs1345875612 | 17:75,398,270 | A/G | — | uncertain significance |
Showing 100 of 585 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.