SEPTIN12
septin 12
Summary
This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs80327194 | 16:4,827,645 | T/G | downstream gene variant | — |
| rs375747537 | 16:4,827,827 | C/T | — | uncertain significance |
| rs773794575 | 16:4,827,829 | C/T | — | uncertain significance |
| rs201762608 | 16:4,827,851 | G/A | — | uncertain significance |
| rs765174507 | 16:4,827,868 | C/T | — | uncertain significance |
| rs2505630462 | 16:4,827,893 | C/T | — | uncertain significance |
| rs201819328 | 16:4,827,902 | G/T | — | uncertain significance |
| rs2082330249 | 16:4,827,920 | G/C | — | uncertain significance |
| rs754691326 | 16:4,827,943 | C/T | — | uncertain significance |
| rs376660617 | 16:4,827,944 | G/A | — | uncertain significance |
| rs939293877 | 16:4,827,961 | A/G | — | uncertain significance |
| rs1567554898 | 16:4,827,970 | G/A | — | uncertain significance |
| rs894361748 | 16:4,827,974 | T/C | — | uncertain significance |
| rs766855868 | 16:4,828,102 | C/G | — | uncertain significance |
| rs202006830 | 16:4,829,726 | A/T | — | uncertain significance |
| rs754985476 | 16:4,829,736 | C/T | — | uncertain significance |
| rs759564248 | 16:4,829,769 | C/T | — | uncertain significance |
| rs147729577 | 16:4,829,770 | G/A | — | likely benign |
| rs8060334 | 16:4,830,068 | G/C | — | benign |
| rs35853112 | 16:4,833,222 | T/C | — | benign |
| rs7201715 | 16:4,833,421 | A/G | — | benign |
| rs1415223925 | 16:4,833,489 | C/T | — | uncertain significance |
| rs781751461 | 16:4,833,491 | T/C | — | uncertain significance |
| rs1386572291 | 16:4,833,495 | T/C | — | uncertain significance |
| rs144953080 | 16:4,833,499 | C/G | — | uncertain significance |
| rs1200710924 | 16:4,833,511 | C/T | — | uncertain significance |
| rs574562030 | 16:4,833,523 | G/C | — | likely benign |
| rs779591455 | 16:4,833,654 | C/T | — | likely benign |
| rs61734736 | 16:4,833,670 | G/A | — | uncertain significance |
| rs750754740 | 16:4,833,681 | G/A | — | uncertain significance |
| rs371195126 | 16:4,833,691 | C/T | — | risk factor |
| rs2082399262 | 16:4,833,697 | T/C | — | uncertain significance |
| rs776599732 | 16:4,833,729 | C/T | — | uncertain significance |
| rs142539985 | 16:4,833,730 | A/T | — | uncertain significance |
| rs202178605 | 16:4,833,736 | G/A | — | uncertain significance |
| rs763481191 | 16:4,833,763 | G/A | — | uncertain significance |
| rs138628476 | 16:4,833,938 | C/T | — | likely benign |
| rs377665033 | 16:4,833,948 | G/C | — | uncertain significance |
| rs144420035 | 16:4,833,960 | C/T | — | uncertain significance |
| rs759991 | 16:4,833,970 | C/T | — | benign |
| rs764990095 | 16:4,833,972 | C/G | — | uncertain significance |
| rs765951766 | 16:4,833,975 | G/A | — | uncertain significance |
| rs767297935 | 16:4,833,992 | C/T | — | uncertain significance |
| rs751433092 | 16:4,833,999 | G/A | — | uncertain significance |
| rs1397725454 | 16:4,834,050 | A/C | — | uncertain significance |
| rs8043579 | 16:4,834,165 | C/T | — | benign |
| rs8043725 | 16:4,834,168 | C/T | — | benign |
| rs12446267 | 16:4,834,324 | G/A | — | benign |
| rs12443636 | 16:4,834,342 | A/G | — | benign |
| rs12443659 | 16:4,834,378 | C/A | — | benign |
| rs12446462 | 16:4,834,384 | C/T | — | benign |
| rs369410288 | 16:4,835,833 | C/T | — | uncertain significance |
| rs528678021 | 16:4,835,986 | G/A | — | uncertain significance |
| rs749217121 | 16:4,835,990 | G/T | — | uncertain significance |
| rs199696526 | 16:4,836,007 | G/A | — | uncertain significance |
| rs741695 | 16:4,837,362 | T/C | — | benign |
| rs139386680 | 16:4,837,537 | T/G | — | uncertain significance |
| rs9673735 | 16:4,837,545 | A/G | — | benign |
| rs1222963313 | 16:4,837,606 | G/A | — | uncertain significance |
| rs2082478422 | 16:4,837,619 | G/C | — | uncertain significance |
| rs753974069 | 16:4,837,625 | G/A | — | uncertain significance |
| rs746750799 | 16:4,837,630 | C/T | — | uncertain significance |
| rs747448161 | 16:4,837,641 | G/T | — | uncertain significance |
| rs12924244 | 16:4,837,965 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.