KIF7

kinesin family member 7

Summary

This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]

Known Variants1,175 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13887566715:90,171,269C/T—uncertain significance
rs105443515:90,171,306G/A—benign
rs7675747415:90,171,396G/A—likely benign
rs55550782515:90,171,412G/A—uncertain significance
rs55907000215:90,171,459A/T—uncertain significance
rs14274777315:90,171,503C/A—uncertain significance
rs803751115:90,171,511G/A—benign
rs76235304115:90,171,517C/A—uncertain significance
rs54933009615:90,171,558G/A—uncertain significance
rs88605152815:90,171,563G/T—uncertain significance
rs14738769115:90,171,613C/T—likely benign
rs37015216615:90,171,614G/A—uncertain significance
rs75799104615:90,171,657G/C—uncertain significance
rs131444209015:90,171,659G/A—likely benign
rs214199072515:90,171,661T/G—uncertain significance
rs74782950915:90,171,666C/T—uncertain significance
rs75794635815:90,171,667G/A—uncertain significance
rs74745585615:90,171,675A/G—uncertain significance
rs77153200515:90,171,678A/T—uncertain significance
rs131352768315:90,171,680C/A—likely benign
rs13799381015:90,171,683C/T—likely benign
rs14572639315:90,171,684G/T—conflicting classifications of pathogenicity
rs136301573415:90,171,690G/C—uncertain significance
rs37706623715:90,171,693C/T—uncertain significance
rs20221439815:90,171,696C/T—uncertain significance
rs14777249415:90,171,697G/A—uncertain significance
rs75477416315:90,171,704C/G—likely benign
rs14122590815:90,171,705C/T—uncertain significance
rs37297900615:90,171,706G/A—uncertain significance
rs119279609815:90,171,707C/T—likely benign
rs7347744315:90,171,708C/T—uncertain significance
rs77714002015:90,171,709G/A—uncertain significance
rs214199092315:90,171,710G/C—likely benign
rs250540635415:90,171,712G/A—uncertain significance
rs53773548415:90,171,714T/C—uncertain significance
rs14813431315:90,171,716G/A—likely benign
rs20089108515:90,171,718A/G—benign
rs37598333015:90,171,720A/G—uncertain significance
rs14102821015:90,171,722A/T—conflicting classifications of pathogenicity
rs88605152915:90,171,725C/A—conflicting classifications of pathogenicity
rs74949944115:90,171,727C/T—uncertain significance
rs214199100315:90,171,728A/G—likely benign
rs76899020715:90,171,729A/G—uncertain significance
rs15024898515:90,171,738G/A—conflicting classifications of pathogenicity
rs77667450615:90,171,740C/G—likely benign
rs75959128815:90,171,744C/T—uncertain significance
rs76265737915:90,171,755C/T—likely benign
rs76374185615:90,171,767C/T—likely benign
rs13899331115:90,171,768C/T—conflicting classifications of pathogenicity
rs75675050515:90,171,769G/A—uncertain significance
rs196358633015:90,171,770C/G—likely benign
rs75667288015:90,171,775C/G—uncertain significance
rs14224693215:90,171,776C/T—likely benign
rs74958934015:90,171,779G/C—likely benign
rs37033356115:90,171,788C/T—conflicting classifications of pathogenicity
rs14630022715:90,171,789G/A—uncertain significance
rs57763754215:90,171,794C/T—likely benign
rs20136368115:90,171,795C/T—uncertain significance
rs77557941615:90,171,805G/A—likely benign
rs104447823415:90,171,808C/T—uncertain significance
rs75119193615:90,171,811C/T—uncertain significance
rs76142102615:90,171,812G/C—likely benign
rs75000209715:90,171,816G/A—uncertain significance
rs54479129415:90,171,831C/G—uncertain significance
rs77224493315:90,171,836C/T—likely benign
rs14387702815:90,171,840C/A—conflicting classifications of pathogenicity
rs53045044715:90,171,842C/T—likely benign
rs77552635115:90,171,843G/A—uncertain significance
rs74922177915:90,171,847G/A—uncertain significance
rs14958515915:90,171,854G/A—likely benign
rs132147993815:90,171,857C/T—likely benign
rs77286645315:90,171,866C/A—likely benign
rs76590735315:90,171,867G/A—uncertain significance
rs214199140015:90,171,870G/T—uncertain significance
rs75434193015:90,171,871C/T—uncertain significance
rs20219748615:90,171,872G/A—likely benign
rs14430175515:90,171,885C/T—uncertain significance
rs74726386515:90,171,886G/A—uncertain significance
rs14874999415:90,171,887C/T—conflicting classifications of pathogenicity
rs74763276015:90,171,888G/A—uncertain significance
rs56120551415:90,171,897C/A—uncertain significance
rs14259877715:90,171,898G/A—conflicting classifications of pathogenicity
rs14719532215:90,171,900G/T—uncertain significance
rs128253705315:90,171,901T/G—uncertain significance
rs14056240415:90,171,904G/A—uncertain significance
rs76945569415:90,171,908G/T—likely benign
rs36783383315:90,171,909G/T—uncertain significance
rs156705664015:90,171,910C/T—uncertain significance
rs159606399115:90,171,915T/G—uncertain significance
rs75908647015:90,171,921A/C—uncertain significance
rs52840761115:90,171,922G/T—uncertain significance
rs14776727715:90,171,923G/C—conflicting classifications of pathogenicity
rs54677274915:90,171,927G/A—uncertain significance
rs159606402715:90,171,928A/G—likely benign
rs14012147915:90,171,929C/A—conflicting classifications of pathogenicity
rs75620412015:90,171,938A/C—likely benign
rs20151902415:90,171,940G/A—uncertain significance
rs77188258115:90,171,941C/G—uncertain significance
rs14988380115:90,171,943C/T—uncertain significance
rs14492929315:90,171,944G/C—conflicting classifications of pathogenicity

Showing 100 of 1,175 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.