KIF5A

kinesin family member 5A

Summary

This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]

Known Variants1,066 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7974942012:57,943,519C/T—benign
rs11525973812:57,943,708A/G—likely benign
rs53323600312:57,943,760C/T—likely benign
rs88604969912:57,943,862G/A—uncertain significance
rs76076312912:57,944,010C/T—uncertain significance
rs37590297812:57,944,042G/A—likely benign
rs254048129012:57,944,057G/A—uncertain significance
rs78043385812:57,944,059C/T—uncertain significance
rs254048130012:57,944,060G/C—likely benign
rs75553209512:57,944,067A/G—uncertain significance
rs188152905412:57,944,076T/C—uncertain significance
rs94085656712:57,944,077G/T—uncertain significance
rs214015010912:57,944,082A/G—uncertain significance
rs78149066012:57,944,084C/A—likely benign
rs74886482112:57,944,086A/C—uncertain significance
rs254048136512:57,944,091C/G—uncertain significance
rs214015011712:57,944,095G/A—uncertain significance
rs254048137212:57,944,096C/T—likely benign
rs214015011912:57,944,097C/T—pathogenic
rs214015012312:57,944,103C/T—uncertain significance
rs254048137612:57,944,105G/T—likely benign
rs77030267412:57,944,106C/T—uncertain significance
rs20087618712:57,944,114C/T—likely benign
rs74555843512:57,944,119C/T—uncertain significance
rs138982210312:57,944,127C/G—uncertain significance
rs254048141212:57,944,130C/T—uncertain significance
rs254048141312:57,944,133G/A—uncertain significance
rs214015019812:57,944,140A/T—uncertain significance
rs19995510812:57,944,146T/C—uncertain significance
rs92350305712:57,944,147C/T—likely benign
rs54046353812:57,944,151A/G—uncertain significance
rs214015021312:57,944,157C/A—uncertain significance
rs156569066012:57,944,172G/A—conflicting classifications of pathogenicity
rs76864266712:57,944,174C/A—likely benign
rs188153176412:57,944,175G/A—uncertain significance
rs120702611112:57,944,178A/G—likely benign
rs14956991412:57,944,180T/G—uncertain significance
rs180091898412:57,944,182G/C—uncertain significance
rs146895843212:57,944,183G/A—uncertain significance
rs254048149512:57,944,184G/A—likely pathogenic
rs254048150212:57,944,189T/A—uncertain significance
rs37213137812:57,944,192C/T—likely benign
rs188153262212:57,944,193G/T—likely benign
rs188153273112:57,944,194C/G—likely benign
rs204311707812:57,944,201G/A—likely benign
rs76322633112:57,944,203G/A—likely benign
rs7334603112:57,944,493C/T—benign
rs188197109912:57,957,206T/C—likely benign
rs214015872512:57,957,208T/C—likely benign
rs188197166812:57,957,228C/G—uncertain significance
rs214015873812:57,957,230A/G—likely benign
rs254049289512:57,957,239T/C—likely benign
rs76976359612:57,957,243C/T—uncertain significance
rs77333605912:57,957,244G/A—conflicting classifications of pathogenicity
rs254049289612:57,957,249T/C—uncertain significance
rs155517734812:57,957,250T/C—uncertain significance
rs53677741212:57,957,251C/T—likely benign
rs254049291612:57,957,254C/T—likely benign
rs116928792312:57,957,255C/G—uncertain significance
rs101454829412:57,957,256C/G—uncertain significance
rs116228283912:57,957,258A/C—uncertain significance
rs75978567112:57,957,262C/T—uncertain significance
rs76781477412:57,957,263G/A—likely benign
rs188197332312:57,957,270G/C—uncertain significance
rs20090018012:57,957,272G/A—likely benign
rs214015875812:57,957,276G/C—uncertain significance
rs254049298012:57,957,291G/C—uncertain significance
rs123020127812:57,957,295T/G—uncertain significance
rs254049298912:57,957,307A/G—uncertain significance
rs254049299212:57,957,309G/A—likely pathogenic
rs132117288512:57,957,314T/C—uncertain significance
rs254049299612:57,957,315A/C—uncertain significance
rs76464040412:57,957,316G/T—likely benign
rs130524704812:57,957,317A/G—likely benign
rs254049311112:57,957,383T/G—likely benign
rs214015882212:57,957,384T/C—likely benign
rs214015882512:57,957,386T/C—likely benign
rs90092464012:57,957,387C/T—likely benign
rs118532913612:57,957,389A/G—likely benign
rs77306370812:57,957,390C/T—likely benign
rs254049312212:57,957,391T/C—likely benign
rs131344296812:57,957,392G/C—likely benign
rs93624524312:57,957,394C/T—likely benign
rs137701872412:57,957,396C/G—likely benign
rs74939550412:57,957,399C/A—likely benign
rs77105235612:57,957,407C/G—likely benign
rs106050252512:57,957,415G/A—uncertain significance
rs214015884812:57,957,418A/G—uncertain significance
rs129983817912:57,957,421A/G—uncertain significance
rs254049318112:57,957,428C/A—likely benign
rs254049318412:57,957,429A/G—uncertain significance
rs134015922112:57,957,437T/C—likely benign
rs188197858912:57,957,440T/C—likely benign
rs254049319812:57,957,444C/G—uncertain significance
rs254049320112:57,957,445A/G—uncertain significance
rs36967353712:57,957,446G/A—likely benign
rs254049320712:57,957,447A/G—likely pathogenic
rs254049321412:57,957,448C/T—pathogenic
rs214015885612:57,957,451C/A—uncertain significance
rs106050252412:57,957,454C/T—uncertain significance

Showing 100 of 1,066 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.