KNL1

kinetochore scaffold 1

Summary

The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]

Known Variants347 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605113715:40,886,465G/A—uncertain significance
rs141516145715:40,886,508C/G—uncertain significance
rs1214845415:40,886,553G/A—likely benign
rs717697415:40,890,297A/Gintron variant—
rs1243895515:40,890,510G/C——
rs7579565615:40,893,976A/Cintron variant—
rs1238598215:40,894,835C/A—benign
rs11657897715:40,895,060G/T—likely benign
rs18681503315:40,895,098G/A—uncertain significance
rs74727489215:40,895,117G/T—uncertain significance
rs20214047715:40,895,139G/T—uncertain significance
rs19991273215:40,895,150G/A—uncertain significance
rs18966366215:40,895,299A/T—likely benign
rs1270840115:40,895,440T/C—benign
rs18844937615:40,897,075T/Cdownstream gene variant—
rs11812212415:40,897,105G/A—likely benign
rs11534708115:40,897,172A/G—likely benign
rs77129427115:40,897,303T/C—likely benign
rs20131105715:40,897,353A/G—conflicting classifications of pathogenicity
rs7498561015:40,897,405A/G—likely benign
rs1290798415:40,897,586G/A—benign
rs92654753015:40,898,587C/T—likely benign
rs20023462215:40,898,604C/T—uncertain significance
rs76230830415:40,898,607G/A—uncertain significance
rs717719215:40,898,643G/Cmissense variantbenign
rs7436304215:40,898,788G/A—benign
rs11512785515:40,900,804G/T—likely benign
rs14248186615:40,900,873G/T—benign
rs77535997615:40,901,052A/G—uncertain significance
rs76393869815:40,901,053T/C—uncertain significance
rs20181876115:40,901,074C/T—conflicting classifications of pathogenicity
rs7991923315:40,902,132G/C—likely benign
rs14765567915:40,902,458G/A—likely benign
rs136216593415:40,902,465A/T—uncertain significance
rs79704542815:40,902,466T/C—uncertain significance
rs7941347515:40,902,490T/C—benign
rs20045135815:40,902,497T/C—uncertain significance
rs76857738315:40,902,498A/G—uncertain significance
rs20150861815:40,902,499A/G—uncertain significance
rs803049115:40,903,051G/A—benign
rs57085801815:40,903,079C/T—likely benign
rs13841887515:40,903,456G/A—likely benign
rs37129401915:40,903,667T/C—conflicting classifications of pathogenicity
rs55529696315:40,903,669T/A—conflicting classifications of pathogenicity
rs56629221615:40,903,678A/G—uncertain significance
rs1291173815:40,903,684A/Gmissense variantbenign
rs159591825115:40,903,716A/G—likely benign
rs102576755015:40,903,719A/G—likely benign
rs7575114115:40,903,742A/T—benign
rs1291205815:40,903,814C/A—benign
rs7468191315:40,903,882A/T—likely benign
rs14134385915:40,907,369G/A—likely benign
rs1291510915:40,908,207A/T——
rs20202352915:40,911,220A/C—uncertain significance
rs430647215:40,912,611A/G—benign
rs20080146815:40,912,859C/T—uncertain significance
rs75547252915:40,912,860G/A—uncertain significance
rs159592350315:40,912,900A/C—likely benign
rs3514655515:40,912,913A/G—likely benign
rs134548120915:40,912,918C/T—likely benign
rs716914215:40,912,959T/C—conflicting classifications of pathogenicity
rs37547991615:40,912,981G/A—likely benign
rs76812417715:40,913,067C/G—uncertain significance
rs77623462815:40,913,068C/T—uncertain significance
rs127973055115:40,913,128G/A—likely benign
rs254318054915:40,913,155T/C—likely benign
rs79704543015:40,913,156——pathogenic
rs7637115215:40,913,189A/G—likely benign
rs57581166015:40,913,205C/T—likely benign
rs56573420815:40,913,206G/A—conflicting classifications of pathogenicity
rs20103777515:40,913,274C/G—conflicting classifications of pathogenicity
rs77782994215:40,913,302G/T—likely benign
rs254318091415:40,913,315C/G—uncertain significance
rs57377869615:40,913,367A/C—uncertain significance
rs75095527215:40,913,372C/T—uncertain significance
rs78029005115:40,913,397C/A—uncertain significance
rs77745398315:40,913,411G/A—uncertain significance
rs155542029515:40,913,439C/T—uncertain significance
rs189251860815:40,913,525A/G—uncertain significance
rs14472629515:40,913,591A/G—likely benign
rs74839219215:40,913,648C/G—uncertain significance
rs98303558115:40,913,665T/C—uncertain significance
rs11331399615:40,913,676A/G—uncertain significance
rs11609340915:40,913,695G/C—conflicting classifications of pathogenicity
rs74699631915:40,913,700C/T—uncertain significance
rs77799007715:40,913,753T/C—uncertain significance
rs3523597215:40,913,761T/C—likely benign
rs54096132115:40,913,798A/G—uncertain significance
rs78132986115:40,913,814A/G—uncertain significance
rs241254115:40,913,840G/Tmissense variantbenign
rs54134684515:40,913,855A/C—uncertain significance
rs77211541615:40,913,860A/C—likely benign
rs19977280615:40,913,891A/G—uncertain significance
rs77915378115:40,913,939G/A—uncertain significance
rs37330681615:40,913,953A/C—uncertain significance
rs5964866315:40,913,955T/A—benign
rs74851417115:40,913,971A/G—uncertain significance
rs97918631315:40,913,983A/G—likely pathogenic
rs19969927415:40,913,985T/A—uncertain significance
rs76501282615:40,914,022C/T—uncertain significance

Showing 100 of 347 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.