SYT1
synaptotagmin 1
Summary
This gene encodes a member of the synaptotagmin protein family. The synaptotagmins are integral membrane proteins of synaptic vesicles that serve as calcium sensors in the process of vesicular trafficking and exocytosis. The encoded protein participates in triggering neurotransmitter release at the synapse in response to calcium binding. Mutations in this gene are associated with Baker-Gordon syndrome. [provided by RefSeq, Jan 2023]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1569033 | 12:79,315,180 | G/A | intron variant | — |
| rs749592679 | 12:79,367,096 | T/C | — | — |
| rs73349601 | 12:79,368,410 | G/T | intron variant | — |
| rs1918202 | 12:79,584,218 | A/G | intron variant | — |
| rs10735416 | 12:79,584,903 | T/C | intron variant | — |
| rs151296432 | 12:79,611,274 | C/G | — | likely benign |
| rs773799671 | 12:79,611,304 | T/C | — | uncertain significance |
| rs771092466 | 12:79,611,309 | G/A | — | uncertain significance |
| rs2037743 | 12:79,611,374 | C/T | — | benign |
| rs377648658 | 12:79,611,442 | T/C | — | uncertain significance |
| rs1245810 | 12:79,637,395 | A/C | intron variant | — |
| rs1245819 | 12:79,642,357 | G/C | — | — |
| rs1268463 | 12:79,643,494 | T/G | intron variant | — |
| rs144711911 | 12:79,646,105 | T/C | regulatory region variant | — |
| rs1245840 | 12:79,654,318 | C/G | — | — |
| rs10861755 | 12:79,661,273 | A/T | — | — |
| rs142140804 | 12:79,679,593 | G/A | — | uncertain significance |
| rs1879285348 | 12:79,679,624 | G/T | — | uncertain significance |
| rs2547649126 | 12:79,679,666 | A/G | — | uncertain significance |
| rs2547649168 | 12:79,679,690 | G/C | — | uncertain significance |
| rs749466656 | 12:79,679,714 | A/G | — | uncertain significance |
| rs1879292660 | 12:79,679,740 | A/T | — | uncertain significance |
| rs7963801 | 12:79,685,226 | T/C | intron variant | — |
| rs1483471349 | 12:79,685,797 | G/A | — | uncertain significance |
| rs34404568 | 12:79,685,814 | T/C | — | benign |
| rs2138851277 | 12:79,685,840 | A/G | — | uncertain significance |
| rs1879614972 | 12:79,685,841 | A/C | — | uncertain significance |
| rs2547654383 | 12:79,685,858 | A/T | — | uncertain significance |
| rs2272500 | 12:79,685,913 | C/A | — | benign |
| rs10861798 | 12:79,686,971 | A/G | intron variant | — |
| rs2138866856 | 12:79,689,850 | T/G | — | likely pathogenic |
| rs755672472 | 12:79,689,854 | G/A | — | likely benign |
| rs2547658346 | 12:79,689,894 | A/G | — | uncertain significance |
| rs1879861862 | 12:79,689,896 | G/T | — | uncertain significance |
| rs2547658370 | 12:79,689,906 | T/A | — | uncertain significance |
| rs2547658372 | 12:79,689,910 | A/G | — | uncertain significance |
| rs2547658386 | 12:79,689,925 | T/C | — | likely pathogenic |
| rs370573414 | 12:79,689,968 | C/G | — | likely benign |
| rs1879865822 | 12:79,689,979 | C/A | — | uncertain significance |
| rs745632757 | 12:79,690,002 | C/A | — | uncertain significance |
| rs2547661142 | 12:79,693,176 | G/C | — | uncertain significance |
| rs757992677 | 12:79,693,310 | G/A | — | likely benign |
| rs2136007449 | 12:79,747,293 | G/C | — | uncertain significance |
| rs1882993257 | 12:79,747,316 | G/A | — | conflicting classifications of pathogenicity |
| rs146053442 | 12:79,747,320 | C/T | — | likely benign |
| rs1565922388 | 12:79,747,379 | T/A | — | pathogenic |
| rs1565922395 | 12:79,747,382 | A/G | — | pathogenic |
| rs2547708515 | 12:79,747,391 | G/A | — | likely pathogenic |
| rs2136007588 | 12:79,747,397 | C/T | — | pathogenic |
| rs2136007608 | 12:79,747,399 | G/A | — | pathogenic |
| rs11114027 | 12:79,775,248 | G/T | intron variant | — |
| rs2251214 | 12:79,823,851 | A/T | — | — |
| rs17005598 | 12:79,834,733 | G/A | intron variant | — |
| rs2547781117 | 12:79,837,917 | T/G | — | uncertain significance |
| rs2547781120 | 12:79,837,919 | A/G | — | uncertain significance |
| rs2547781146 | 12:79,837,946 | A/G | — | uncertain significance |
| rs2136202023 | 12:79,837,967 | T/C | — | uncertain significance |
| rs2547781186 | 12:79,837,973 | T/A | — | uncertain significance |
| rs12812916 | 12:79,842,709 | G/T | — | benign |
| rs1593076434 | 12:79,842,711 | T/C | — | uncertain significance |
| rs1555226395 | 12:79,842,725 | G/A | — | likely pathogenic |
| rs2136211948 | 12:79,842,728 | T/C | — | likely pathogenic |
| rs1565962725 | 12:79,842,733 | C/A | — | pathogenic |
| rs1135402761 | 12:79,842,738 | T/C | — | pathogenic |
| rs144900171 | 12:79,842,748 | C/G | — | pathogenic |
| rs2136211984 | 12:79,842,749 | G/A | — | uncertain significance |
| rs2547786000 | 12:79,842,750 | A/G | — | uncertain significance |
| rs572536317 | 12:79,842,790 | C/T | — | likely benign |
| rs56012845 | 12:79,842,793 | G/A | — | likely benign |
| rs1377017458 | 12:79,842,833 | C/T | — | pathogenic |
| rs146147511 | 12:79,842,892 | C/T | — | likely benign |
| rs61756211 | 12:79,842,893 | G/A | — | likely benign |
| rs369953539 | 12:79,842,894 | T/C | — | likely benign |
| rs115059325 | 12:79,845,197 | A/G | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.