ZFYVE27

zinc finger FYVE-type containing 27

Summary

This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]

Known Variants182 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76636594710:99,498,224A/G—uncertain significance
rs381887610:99,498,234A/G—benign
rs254026069310:99,498,237G/T—uncertain significance
rs20084340810:99,498,252T/C—likely benign
rs11231649010:99,498,266C/T—benign
rs74888633710:99,498,271C/G—likely benign
rs14869407110:99,498,283G/A—uncertain significance
rs76932235010:99,498,287T/C—uncertain significance
rs14081229310:99,498,296C/T—likely benign
rs3497992110:99,498,313C/G—benign
rs123487234810:99,498,331C/T—uncertain significance
rs131037556610:99,498,335C/T—uncertain significance
rs1741902310:99,498,360C/T—likely benign
rs19954855510:99,498,383A/G—uncertain significance
rs74866025610:99,498,391C/T—conflicting classifications of pathogenicity
rs76061692010:99,498,421T/C—uncertain significance
rs204275473810:99,498,439C/T—uncertain significance
rs254042408210:99,502,850G/A—uncertain significance
rs96929442810:99,502,872C/G—uncertain significance
rs254042540010:99,502,887G/C—likely benign
rs14535638910:99,502,891C/T—benign
rs56525041310:99,502,895A/G—uncertain significance
rs1710837810:99,502,897G/A—benign
rs11704902910:99,504,470G/A—benign
rs254047122310:99,504,484A/G—uncertain significance
rs36754579110:99,504,507C/T—uncertain significance
rs76671996710:99,504,527G/A—uncertain significance
rs37515410810:99,504,532G/C—likely benign
rs37417198410:99,504,557C/T—likely benign
rs36858614110:99,504,558G/A—uncertain significance
rs37643215410:99,504,577C/G—likely benign
rs37748346010:99,504,584A/T—uncertain significance
rs7506057310:99,504,595A/G—benign
rs76346465910:99,504,603G/A—uncertain significance
rs1088299310:99,504,630G/T—benign
rs36997201310:99,504,632C/T—uncertain significance
rs104036176410:99,504,633G/C—uncertain significance
rs14574608410:99,504,641C/T—likely benign
rs37474937410:99,504,647G/A—uncertain significance
rs74665406510:99,504,653G/A—uncertain significance
rs1088299410:99,504,725A/G—benign
rs707772510:99,504,781C/T—benign
rs1159189810:99,507,806T/A—benign
rs1118935210:99,507,869T/C—benign
rs36882995010:99,508,008A/C—likely benign
rs1226440110:99,508,014C/T—benign
rs76041006410:99,508,054C/T—uncertain significance
rs55505188510:99,508,078G/A—likely benign
rs11636664610:99,508,086C/T—benign
rs14351521410:99,508,092G/A—likely benign
rs75137946910:99,508,108G/A—uncertain significance
rs15095134110:99,508,111G/A—likely benign
rs213614652410:99,508,122G/A—uncertain significance
rs55433450110:99,508,135C/T—benign
rs4131702810:99,508,142T/C—benign
rs791645410:99,508,357A/G—benign
rs791659310:99,508,408C/T—benign
rs20009187110:99,509,218C/A—likely benign
rs57530647610:99,509,236A/G—uncertain significance
rs3507738410:99,509,251G/Tmissense variantpathogenic
rs89782422010:99,509,318T/C—likely benign
rs56524613710:99,509,341G/A—uncertain significance
rs94677810:99,509,457T/G—benign
rs375061510:99,509,969T/C—benign
rs375061410:99,510,068T/G—benign
rs204660273310:99,510,103G/A—uncertain significance
rs75324630210:99,510,140A/G—likely benign
rs102190085410:99,510,143G/A—likely benign
rs13820325210:99,510,145A/G—uncertain significance
rs98048399810:99,510,150T/C—uncertain significance
rs254067568210:99,510,158T/A—uncertain significance
rs77820187710:99,510,159C/T—uncertain significance
rs75748943010:99,510,178G/T—uncertain significance
rs77534596210:99,510,187A/G—uncertain significance
rs213619861910:99,510,210G/A—uncertain significance
rs88604752510:99,510,220C/T—uncertain significance
rs37666462410:99,510,223C/T—uncertain significance
rs36983445310:99,510,228G/C—uncertain significance
rs382913710:99,510,284C/T—benign
rs1078637210:99,510,331A/G—benign
rs1118935310:99,510,962C/T—benign
rs254071211710:99,511,121C/T—likely benign
rs37271503210:99,511,131A/G—uncertain significance
rs53544977610:99,511,143C/T—conflicting classifications of pathogenicity
rs14363453910:99,511,158C/T—uncertain significance
rs56101183710:99,511,159G/A—likely benign
rs128899880910:99,511,194A/G—uncertain significance
rs20219675910:99,511,234C/T—benign
rs381455810:99,511,429T/C—benign
rs153872310:99,512,472T/C—benign
rs76779563010:99,512,615A/G—uncertain significance
rs130161068110:99,512,631G/A—likely benign
rs108530794810:99,512,635G/A—uncertain significance
rs37209758510:99,512,646C/G—likely benign
rs213625330710:99,512,652T/G—uncertain significance
rs18292511810:99,512,653G/A—benign
rs75388709410:99,512,806G/A—likely benign
rs76168679810:99,512,808G/A—uncertain significance
rs140575074510:99,512,810G/A—conflicting classifications of pathogenicity
rs88604752610:99,512,811C/T—uncertain significance

Showing 100 of 182 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.