KIFBP

kinesin family binding protein

Summary

This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]

Known Variants170 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7280350910:70,748,172C/T—benign
rs11677265110:70,748,549G/A—likely benign
rs19984998110:70,748,569G/A—likely benign
rs184330736310:70,748,607G/T—uncertain significance
rs55358775510:70,748,617G/T—uncertain significance
rs148145883410:70,748,635C/T—uncertain significance
rs20177782910:70,748,636G/T—conflicting classifications of pathogenicity
rs213210427410:70,748,642T/C—likely benign
rs77349598910:70,748,648G/C—uncertain significance
rs36845275310:70,748,654G/A—uncertain significance
rs14876885110:70,748,656A/G—likely benign
rs14406734410:70,748,666A/G—conflicting classifications of pathogenicity
rs249229715910:70,748,687C/G—uncertain significance
rs37222360210:70,748,704C/G—uncertain significance
rs75778137410:70,748,709G/C—uncertain significance
rs75548904610:70,748,743C/T—uncertain significance
rs77020172110:70,748,757G/T—likely pathogenic
rs77351267810:70,748,763G/A—uncertain significance
rs225560710:70,748,784G/A—benign
rs20106885910:70,748,790G/C—likely benign
rs139395577610:70,748,797G/C—uncertain significance
rs78176185810:70,748,819G/A—likely benign
rs12143451510:70,748,838G/Tstop gainedpathogenic
rs77114979910:70,748,846C/T—likely benign
rs12143451410:70,748,856C/Tstop gainedpathogenic
rs135220195510:70,748,864G/A—likely benign
rs133993459410:70,748,889C/T—uncertain significance
rs91291227410:70,748,905T/A—uncertain significance
rs124810599510:70,748,906C/T—uncertain significance
rs76859297510:70,748,910A/G—uncertain significance
rs249229799610:70,748,956G/A—uncertain significance
rs75320413810:70,748,973C/G—uncertain significance
rs75666511710:70,748,975G/A—likely benign
rs77209888410:70,748,994T/A—uncertain significance
rs1277872110:70,759,170A/T——
rs18852417010:70,759,912C/T—benign
rs11502748310:70,759,967G/A—likely benign
rs75859933410:70,760,167C/T—likely benign
rs249231437410:70,760,192A/G—uncertain significance
rs20059630910:70,760,270A/G—uncertain significance
rs6262503310:70,760,271C/T—likely benign
rs224567910:70,760,366A/G—benign
rs224616110:70,764,538T/C—benign
rs7327040410:70,764,553G/A—likely benign
rs37218218110:70,764,786T/C—likely benign
rs104771529810:70,764,817C/T—uncertain significance
rs11264209710:70,764,826A/G—uncertain significance
rs249232194910:70,764,829G/A—uncertain significance
rs20009881310:70,764,832C/T—conflicting classifications of pathogenicity
rs13948388010:70,764,833G/A—conflicting classifications of pathogenicity
rs77186346310:70,764,838C/A—uncertain significance
rs158929623910:70,764,841C/T—uncertain significance
rs37707277010:70,764,860C/G—uncertain significance
rs73088215010:70,764,875C/Astop gainedpathogenic
rs73088215110:70,764,880——pathogenic
rs75531802910:70,764,882G/A—likely pathogenic
rs77362634010:70,764,893T/C—uncertain significance
rs248770710:70,765,092G/T—benign
rs6685903710:70,765,250G/A—benign
rs11367855510:70,765,356C/T—benign
rs37752215210:70,765,474T/C—likely benign
rs77125193210:70,765,480C/A—likely benign
rs14662767310:70,765,497G/A—likely benign
rs37067071510:70,765,538A/G—uncertain significance
rs213211369810:70,765,549A/T—uncertain significance
rs36891644010:70,765,551G/A—uncertain significance
rs78125733410:70,765,561G/A—uncertain significance
rs77454441210:70,765,575C/T—likely benign
rs76060406810:70,765,592G/A—uncertain significance
rs54758263410:70,765,600G/A—uncertain significance
rs14082689310:70,765,615C/T—uncertain significance
rs135549459110:70,765,633A/G—uncertain significance
rs93718911610:70,765,638T/G—uncertain significance
rs57248500310:70,765,660T/A—uncertain significance
rs74911069910:70,765,663A/G—uncertain significance
rs139905144510:70,765,671G/A—conflicting classifications of pathogenicity
rs15023445310:70,765,711G/A—likely benign
rs4130055210:70,765,936A/G—likely benign
rs75138600910:70,768,599A/G—likely benign
rs120388166710:70,768,626A/G—likely benign
rs249232975610:70,768,662G/A—likely benign
rs75777220510:70,768,665C/T—uncertain significance
rs119362775610:70,768,691C/T—likely benign
rs249101610:70,768,804G/T—benign
rs37084568210:70,770,641A/G—likely benign
rs90906905710:70,770,643A/G—likely benign
rs184358262210:70,770,646T/C—uncertain significance
rs249233273310:70,770,664G/A—uncertain significance
rs14980965710:70,770,682G/A—uncertain significance
rs7631936510:70,770,706G/A—uncertain significance
rs20052524910:70,770,742C/G—uncertain significance
rs20107649710:70,770,744C/T—conflicting classifications of pathogenicity
rs14127901010:70,770,746T/C—uncertain significance
rs76901369510:70,770,754G/A—uncertain significance
rs129334086410:70,770,757C/T—pathogenic
rs249233314510:70,770,766A/G—uncertain significance
rs57085189310:70,770,782C/T—likely benign
rs19071343210:70,770,840A/G—benign
rs242902310:70,775,001C/T—benign
rs242902210:70,775,081T/C—benign

Showing 100 of 170 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.