SYT14
synaptotagmin 14
Summary
This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]
Known Variants80 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6692116 | 1:210,111,242 | A/T | — | benign |
| rs139994721 | 1:210,111,493 | C/T | — | benign |
| rs542912482 | 1:210,111,546 | C/T | — | likely benign |
| rs368545452 | 1:210,111,597 | T/C | — | uncertain significance |
| rs749192802 | 1:210,111,605 | G/A | — | likely benign |
| rs985232390 | 1:210,111,607 | A/G | — | conflicting classifications of pathogenicity |
| rs1351759000 | 1:210,111,617 | T/C | — | likely benign |
| rs1553255775 | 1:210,111,623 | G/A | — | likely pathogenic |
| rs12025114 | 1:210,111,733 | A/G | — | benign |
| rs7530907 | 1:210,125,880 | T/C | — | benign |
| rs567063787 | 1:210,126,082 | A/G | — | uncertain significance |
| rs10779518 | 1:210,139,069 | G/A | — | benign |
| rs2079149912 | 1:210,139,243 | G/T | — | uncertain significance |
| rs866440102 | 1:210,139,277 | A/G | — | uncertain significance |
| rs914659249 | 1:210,139,302 | G/A | — | uncertain significance |
| rs9803620 | 1:210,139,506 | C/T | — | benign |
| rs12136540 | 1:210,155,962 | T/C | intron variant | — |
| rs149932852 | 1:210,187,034 | C/A | — | uncertain significance |
| rs188995220 | 1:210,187,037 | C/T | — | uncertain significance |
| rs1572158245 | 1:210,187,108 | A/G | — | likely benign |
| rs149170280 | 1:210,187,118 | A/G | — | uncertain significance |
| rs565184877 | 1:210,194,202 | A/G | — | benign |
| rs1553267067 | 1:210,194,429 | G/A | — | uncertain significance |
| rs978216836 | 1:210,194,431 | G/A | — | uncertain significance |
| rs141974517 | 1:210,194,442 | G/A | — | likely benign |
| rs746405453 | 1:210,194,524 | T/C | — | uncertain significance |
| rs1192775388 | 1:210,194,549 | C/G | — | uncertain significance |
| rs145963511 | 1:210,194,555 | C/T | — | conflicting classifications of pathogenicity |
| rs116593136 | 1:210,194,556 | G/A | — | benign |
| rs71515148 | 1:210,194,565 | T/C | — | likely benign |
| rs11119394 | 1:210,194,685 | A/G | — | likely benign |
| rs227179 | 1:210,216,731 | A/G | intron variant | — |
| rs227206 | 1:210,241,985 | T/G | intron variant | — |
| rs35046399 | 1:210,255,765 | T/C | intron variant | — |
| rs227199 | 1:210,265,384 | G/C | intron variant | — |
| rs2527907597 | 1:210,267,670 | A/G | — | uncertain significance |
| rs145167760 | 1:210,267,753 | C/T | — | benign |
| rs1027115343 | 1:210,267,775 | T/C | — | uncertain significance |
| rs200087065 | 1:210,267,811 | A/G | — | uncertain significance |
| rs1159895035 | 1:210,267,935 | T/C | — | likely benign |
| rs534094479 | 1:210,273,354 | T/C | — | benign |
| rs749255767 | 1:210,273,416 | A/C | — | uncertain significance |
| rs149544914 | 1:210,273,523 | G/A | — | uncertain significance |
| rs1572297644 | 1:210,273,578 | A/G | — | likely benign |
| rs2527943831 | 1:210,273,676 | T/G | — | uncertain significance |
| rs867886951 | 1:210,273,696 | C/T | — | uncertain significance |
| rs142853530 | 1:210,273,697 | G/A | — | likely benign |
| rs376509952 | 1:210,273,710 | A/G | — | likely benign |
| rs1572298131 | 1:210,273,773 | G/A | — | likely benign |
| rs201225342 | 1:210,273,783 | T/C | — | likely benign |
| rs2494187 | 1:210,273,886 | A/T | — | benign |
| rs4844947 | 1:210,302,700 | G/C | intron variant | — |
| rs7516843 | 1:210,322,929 | A/G | intron variant | — |
| rs4589109 | 1:210,328,813 | G/T | — | benign |
| rs759225529 | 1:210,329,083 | G/A | — | uncertain significance |
| rs752196611 | 1:210,329,085 | G/A | — | uncertain significance |
| rs192258059 | 1:210,329,087 | G/A | — | likely benign |
| rs2083256885 | 1:210,329,140 | T/A | — | uncertain significance |
| rs2528232620 | 1:210,329,202 | C/T | — | uncertain significance |
| rs1375143721 | 1:210,329,216 | G/A | — | uncertain significance |
| rs387907033 | 1:210,329,217 | G/A | missense variant | pathogenic |
| rs12408541 | 1:210,332,577 | C/A | — | likely benign |
| rs927130191 | 1:210,332,757 | T/C | — | likely benign |
| rs2528251650 | 1:210,332,777 | T/C | — | uncertain significance |
| rs7535045 | 1:210,333,776 | A/G | — | benign |
| rs73061732 | 1:210,333,943 | C/T | — | likely benign |
| rs17188183 | 1:210,334,081 | C/T | — | benign |
| rs1333075104 | 1:210,334,106 | A/G | — | uncertain significance |
| rs1572398156 | 1:210,334,109 | G/A | — | uncertain significance |
| rs746278965 | 1:210,334,155 | C/G | — | uncertain significance |
| rs768344145 | 1:210,334,198 | A/G | — | likely benign |
| rs17015695 | 1:210,334,201 | T/C | — | benign |
| rs2528260817 | 1:210,334,226 | C/G | — | uncertain significance |
| rs2083362615 | 1:210,334,311 | A/G | — | uncertain significance |
| rs1369650662 | 1:210,334,317 | A/G | — | uncertain significance |
| rs1255071936 | 1:210,334,363 | A/C | — | uncertain significance |
| rs970796538 | 1:210,334,371 | C/T | — | uncertain significance |
| rs371789098 | 1:210,334,372 | G/A | — | likely benign |
| rs1482516941 | 1:210,334,386 | G/A | — | uncertain significance |
| rs78508049 | 1:210,344,884 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.