STX11

syntaxin 11

Summary

This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]

Known Variants331 total

rsidPosition (GRCh37)AllelesClassClinVar
rs8860611396:144,471,706C/T—uncertain significance
rs10550934736:144,471,721C/G—uncertain significance
rs1468405176:144,471,759C/T—benign
rs8860611406:144,471,775C/T—uncertain significance
rs77558426:144,479,462A/Tregulatory region variant—
rs170734636:144,492,767T/Cregulatory region variant—
rs7511303866:144,507,760G/A—uncertain significance
rs7542787756:144,507,773C/A—uncertain significance
rs3756102316:144,507,775G/A—uncertain significance
rs18020437546:144,507,777C/T—likely benign
rs2022208136:144,507,779A/G—likely benign
rs18020442316:144,507,781C/T—uncertain significance
rs2018883136:144,507,784A/C—uncertain significance
rs344703106:144,507,790T/G—conflicting classifications of pathogenicity
rs7480545096:144,507,797G/A—likely benign
rs18020449556:144,507,798T/G—uncertain significance
rs25337976836:144,507,800C/T—likely benign
rs7730086406:144,507,810G/A—uncertain significance
rs18020455306:144,507,815G/A—likely benign
rs8920788176:144,507,817A/G—uncertain significance
rs18020457776:144,507,821C/T—likely benign
rs7706398376:144,507,822C/T—uncertain significance
rs1491768216:144,507,827C/T—conflicting classifications of pathogenicity
rs3750916616:144,507,828G/C—uncertain significance
rs7669585626:144,507,831G/A—uncertain significance
rs11844679726:144,507,837G/T—pathogenic
rs5486467946:144,507,840T/A—uncertain significance
rs1435472596:144,507,847C/A—pathogenic
rs25337982646:144,507,851C/T—likely benign
rs7518068876:144,507,854C/A—uncertain significance
rs18024146:144,507,855G/A—uncertain significance
rs7482048336:144,507,857G/A—likely benign
rs21287567636:144,507,860C/T—likely benign
rs13748019696:144,507,861A/G—uncertain significance
rs7560689796:144,507,863C/G—uncertain significance
rs7776866786:144,507,864G/A—uncertain significance
rs7706908896:144,507,869C/T—likely benign
rs3733337986:144,507,870G/C—uncertain significance
rs7748751676:144,507,875G/C—likely benign
rs7602189136:144,507,878C/A—uncertain significance
rs10187991336:144,507,879C/T—uncertain significance
rs5356687626:144,507,884C/T—likely benign
rs7668697156:144,507,885C/T—likely benign
rs7519290256:144,507,886T/C—uncertain significance
rs13943764326:144,507,900C/G—uncertain significance
rs7527901666:144,507,905C/T—likely benign
rs170734986:144,507,910G/A—likely benign
rs7777379106:144,507,920G/A—likely benign
rs7492465686:144,507,921G/A—uncertain significance
rs14391324226:144,507,922A/G—uncertain significance
rs3745842156:144,507,928A/G—uncertain significance
rs1448572316:144,507,936C/T—likely benign
rs4319055126:144,507,937T/Cmissense variantpathogenic
rs18020514146:144,507,938G/C—likely benign
rs7797519176:144,507,943C/T—uncertain significance
rs12224376876:144,507,944C/T—likely benign
rs12674023756:144,507,945G/C—uncertain significance
rs3749221986:144,507,947C/T—likely benign
rs7762279896:144,507,948G/A—uncertain significance
rs7635831906:144,507,953G/A—likely benign
rs12040790666:144,507,955G/A—uncertain significance
rs7805257146:144,507,957C/T—likely benign
rs7599430026:144,507,964A/G—uncertain significance
rs25337996256:144,507,968G/A—likely benign
rs7529457096:144,507,971C/G—uncertain significance
rs7641923016:144,507,978T/C—uncertain significance
rs5401504476:144,507,985C/T—conflicting classifications of pathogenicity
rs21287568956:144,507,986G/A—likely benign
rs13175702066:144,507,991T/C—uncertain significance
rs1414870686:144,507,992G/C—conflicting classifications of pathogenicity
rs7788078086:144,507,993C/A—likely benign
rs2017755306:144,508,001C/T—likely benign
rs25337999906:144,508,006G/A—uncertain significance
rs25337999996:144,508,007C/T—likely benign
rs2005270246:144,508,010C/T—likely benign
rs5741270916:144,508,011A/G—conflicting classifications of pathogenicity
rs21287569296:144,508,019C/T—likely benign
rs21287569316:144,508,022C/T—likely benign
rs7716347986:144,508,024A/C—uncertain significance
rs7748952256:144,508,028C/T—conflicting classifications of pathogenicity
rs11636765606:144,508,031C/T—likely benign
rs9798570966:144,508,041A/G—uncertain significance
rs3714021706:144,508,045A/G—uncertain significance
rs14423361816:144,508,050C/T—uncertain significance
rs12421740486:144,508,053G/A—uncertain significance
rs25338004786:144,508,055C/T—likely benign
rs14494819826:144,508,056G/A—uncertain significance
rs3749208516:144,508,067C/T—likely benign
rs7618758006:144,508,083A/G—uncertain significance
rs25338008156:144,508,088G/A—likely benign
rs14463408156:144,508,089G/T—likely pathogenic
rs18020580646:144,508,091G/A—likely benign
rs9020666926:144,508,098G/T—pathogenic
rs5627146906:144,508,100G/A—likely benign
rs18020591376:144,508,106T/A—likely benign
rs15626704846:144,508,118C/T—likely benign
rs8666586906:144,508,119G/T—uncertain significance
rs7464184446:144,508,123C/G—uncertain significance
rs7759381436:144,508,124G/A—likely benign
rs14403653496:144,508,127C/T—likely benign

Showing 100 of 331 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.