TCTN3
tectonic family member 3
Summary
This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]
Known Variants411 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7080192 | 10:97,422,803 | G/A | downstream gene variant | — |
| rs6946 | 10:97,423,708 | C/A | — | benign |
| rs74150980 | 10:97,423,779 | A/G | — | benign |
| rs2492671725 | 10:97,423,832 | T/C | — | uncertain significance |
| rs925465728 | 10:97,423,836 | T/C | — | likely benign |
| rs2492671797 | 10:97,423,839 | G/A | — | likely benign |
| rs2097923872 | 10:97,423,849 | C/A | — | uncertain significance |
| rs1291662541 | 10:97,423,852 | A/C | — | uncertain significance |
| rs201503285 | 10:97,423,856 | G/A | — | likely benign |
| rs1589598778 | 10:97,423,866 | C/G | — | likely benign |
| rs2492672109 | 10:97,423,869 | G/T | — | likely benign |
| rs375708075 | 10:97,423,874 | G/C | — | uncertain significance |
| rs2097923898 | 10:97,423,876 | A/G | — | uncertain significance |
| rs746968875 | 10:97,423,877 | T/A | — | uncertain significance |
| rs927310199 | 10:97,423,882 | G/C | — | uncertain significance |
| rs137856303 | 10:97,423,884 | G/A | — | likely benign |
| rs1416641435 | 10:97,423,886 | C/T | — | uncertain significance |
| rs2097923913 | 10:97,423,888 | G/T | — | likely pathogenic |
| rs2097923917 | 10:97,423,890 | G/A | — | likely benign |
| rs776341556 | 10:97,423,893 | T/A | — | uncertain significance |
| rs1566062590 | 10:97,423,907 | C/G | — | uncertain significance |
| rs1352225292 | 10:97,423,912 | C/T | — | uncertain significance |
| rs2097923946 | 10:97,423,932 | G/A | — | likely benign |
| rs780308423 | 10:97,423,943 | C/T | — | uncertain significance |
| rs527640694 | 10:97,423,944 | G/A | — | likely benign |
| rs370069674 | 10:97,423,953 | T/C | — | likely benign |
| rs369937483 | 10:97,423,960 | T/G | — | uncertain significance |
| rs761227686 | 10:97,423,968 | G/A | — | likely benign |
| rs754193676 | 10:97,423,979 | T/C | — | uncertain significance |
| rs2139691743 | 10:97,423,988 | G/A | — | uncertain significance |
| rs2097923995 | 10:97,423,998 | G/A | — | likely benign |
| rs1566062750 | 10:97,424,040 | T/C | — | likely benign |
| rs768523448 | 10:97,424,041 | G/A | — | uncertain significance |
| rs1290852650 | 10:97,424,042 | T/C | — | uncertain significance |
| rs2097924028 | 10:97,424,046 | T/C | — | likely benign |
| rs781164369 | 10:97,424,052 | A/G | — | likely benign |
| rs747933488 | 10:97,424,056 | T/A | — | uncertain significance |
| rs143735885 | 10:97,424,057 | C/A | — | uncertain significance |
| rs376757601 | 10:97,424,061 | C/T | — | likely benign |
| rs181107730 | 10:97,424,062 | G/A | — | conflicting classifications of pathogenicity |
| rs1172229146 | 10:97,424,064 | G/C | — | likely benign |
| rs1317879597 | 10:97,424,066 | A/C | — | likely benign |
| rs373643964 | 10:97,424,069 | A/G | — | likely benign |
| rs117967424 | 10:97,426,470 | C/T | intron variant | — |
| rs61868622 | 10:97,432,725 | C/A | — | — |
| rs374678068 | 10:97,434,612 | A/G | — | — |
| rs771299869 | 10:97,440,106 | A/G | — | benign |
| rs11595248 | 10:97,440,159 | G/A | — | benign |
| rs781078051 | 10:97,440,214 | T/C | — | likely benign |
| rs2097941757 | 10:97,440,215 | G/A | — | likely benign |
| rs748135693 | 10:97,440,221 | T/C | — | likely benign |
| rs756071891 | 10:97,440,225 | T/A | — | uncertain significance |
| rs1165507491 | 10:97,440,230 | T/C | — | uncertain significance |
| rs2492731065 | 10:97,440,236 | G/T | — | uncertain significance |
| rs1474769675 | 10:97,440,239 | T/C | — | uncertain significance |
| rs749117268 | 10:97,440,243 | A/G | — | uncertain significance |
| rs768137956 | 10:97,440,244 | C/A | — | uncertain significance |
| rs771745084 | 10:97,440,247 | G/C | — | uncertain significance |
| rs201367852 | 10:97,440,250 | T/C | — | conflicting classifications of pathogenicity |
| rs150579201 | 10:97,440,252 | G/A | — | likely benign |
| rs2492731203 | 10:97,440,255 | A/G | — | uncertain significance |
| rs765803620 | 10:97,440,257 | C/G | — | uncertain significance |
| rs763433183 | 10:97,440,258 | G/A | — | uncertain significance |
| rs1589611796 | 10:97,440,265 | T/A | — | likely benign |
| rs2097941875 | 10:97,440,271 | A/G | — | likely benign |
| rs1026823695 | 10:97,440,280 | C/T | — | likely benign |
| rs756561177 | 10:97,440,281 | G/A | — | uncertain significance |
| rs755942179 | 10:97,440,282 | G/A | — | uncertain significance |
| rs376520003 | 10:97,440,306 | C/T | — | uncertain significance |
| rs751864135 | 10:97,440,316 | C/T | — | likely benign |
| rs1327433488 | 10:97,440,320 | A/G | — | uncertain significance |
| rs2139731591 | 10:97,440,322 | C/T | — | likely benign |
| rs139612049 | 10:97,440,329 | G/C | — | uncertain significance |
| rs2097942002 | 10:97,440,330 | A/C | — | uncertain significance |
| rs149728983 | 10:97,440,345 | A/T | — | uncertain significance |
| rs759717531 | 10:97,440,350 | G/A | — | uncertain significance |
| rs1438043048 | 10:97,440,352 | A/G | — | likely benign |
| rs767733835 | 10:97,440,353 | G/A | — | uncertain significance |
| rs1273735180 | 10:97,440,356 | C/G | — | uncertain significance |
| rs2097942057 | 10:97,440,362 | A/T | — | uncertain significance |
| rs760863463 | 10:97,440,363 | T/C | — | uncertain significance |
| rs2097942068 | 10:97,440,366 | C/A | — | uncertain significance |
| rs12784530 | 10:97,440,394 | T/C | — | benign |
| rs7072953 | 10:97,440,572 | G/C | — | benign |
| rs111513270 | 10:97,440,691 | A/C | — | likely benign |
| rs192689854 | 10:97,441,974 | C/T | intron variant | — |
| rs141293370 | 10:97,442,176 | G/A | — | benign |
| rs4917699 | 10:97,442,233 | A/G | — | benign |
| rs3818833 | 10:97,442,308 | T/C | — | benign |
| rs376162804 | 10:97,442,391 | T/C | — | likely benign |
| rs779934498 | 10:97,442,392 | A/G | — | likely benign |
| rs2139736784 | 10:97,442,409 | G/A | — | uncertain significance |
| rs753883610 | 10:97,442,420 | G/A | — | likely benign |
| rs200151165 | 10:97,442,422 | G/A | — | uncertain significance |
| rs144543830 | 10:97,442,435 | C/T | — | likely benign |
| rs1190331074 | 10:97,442,439 | G/C | — | uncertain significance |
| rs2097944204 | 10:97,442,443 | A/G | — | uncertain significance |
| rs2492739853 | 10:97,442,445 | C/T | — | uncertain significance |
| rs140103426 | 10:97,442,457 | G/A | — | uncertain significance |
| rs1218187792 | 10:97,442,458 | C/G | — | uncertain significance |
Showing 100 of 411 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.