WDR73

WD repeat domain 73

Summary

The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Known Variants161 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11473567815:85,186,529T/A—benign
rs723715:85,186,577C/T—benign
rs51087515:85,186,637C/G—benign
rs37595491315:85,186,705C/T—conflicting classifications of pathogenicity
rs37662212715:85,186,706G/A—uncertain significance
rs88730215515:85,186,708G/A—uncertain significance
rs20102399415:85,186,710G/A—likely benign
rs146490938815:85,186,711G/C—uncertain significance
rs18553837515:85,186,712C/A—conflicting classifications of pathogenicity
rs91608181515:85,186,722C/T—likely benign
rs250536247115:85,186,732C/T—uncertain significance
rs54007495815:85,186,741A/G—uncertain significance
rs74828407415:85,186,748C/T—uncertain significance
rs76079738015:85,186,765A/G—uncertain significance
rs76291013315:85,186,776T/C—likely benign
rs37540808015:85,186,785G/C—likely benign
rs75565552715:85,186,792C/T—likely pathogenic
rs75409901515:85,186,799G/Amissense variantpathogenic
rs20029490515:85,186,800G/A—likely benign
rs189633827115:85,186,820G/T—uncertain significance
rs19967607615:85,186,827C/A—benign
rs54888662415:85,186,836A/G—likely benign
rs7275086815:85,186,837C/T—benign
rs99835885815:85,186,848G/A—likely benign
rs250536332515:85,186,849T/C—uncertain significance
rs36938252615:85,186,857G/A—likely benign
rs53136628315:85,186,866G/C—likely benign
rs156702066515:85,186,882C/T—uncertain significance
rs37344831715:85,186,886G/A—conflicting classifications of pathogenicity
rs37034703315:85,186,891C/G—uncertain significance
rs79704499415:85,186,898G/Astop gainedpathogenic
rs20129409015:85,186,903C/T—conflicting classifications of pathogenicity
rs75891304315:85,186,904G/A—uncertain significance
rs20160826915:85,186,910C/A—uncertain significance
rs250536407315:85,186,922T/C—uncertain significance
rs76844974515:85,186,923G/T—likely benign
rs74811121715:85,186,926A/G—likely benign
rs77185615015:85,186,938G/A—likely benign
rs159604822715:85,186,954C/T—conflicting classifications of pathogenicity
rs37287048315:85,186,957G/A—uncertain significance
rs14446760315:85,187,062G/C—likely benign
rs1163048715:85,187,103C/T—benign
rs1163376215:85,187,152T/C—benign
rs3406932315:85,187,245T/Cregulatory region variant—
rs803376915:85,188,420C/T—likely benign
rs7344932615:85,188,637G/T—likely benign
rs20013303015:85,188,694G/A—likely benign
rs250537036115:85,188,710G/A—uncertain significance
rs156702175615:85,188,713A/T—likely pathogenic
rs74692627515:85,188,728C/A—uncertain significance
rs250537052815:85,188,738A/C—uncertain significance
rs37225928315:85,188,747G/A—conflicting classifications of pathogenicity
rs250537063315:85,188,757T/C—likely benign
rs37474253815:85,188,769A/G—likely benign
rs189642056915:85,188,771G/T—uncertain significance
rs484298215:85,188,775G/A—benign
rs128853701915:85,188,801C/A—uncertain significance
rs134951214615:85,188,811G/A—likely benign
rs86655148215:85,188,818C/T—likely pathogenic
rs126193146715:85,188,819G/A—uncertain significance
rs1107361915:85,188,839C/T—benign
rs37581122815:85,188,840G/A—conflicting classifications of pathogenicity
rs36884559215:85,188,853A/C—likely benign
rs134036212315:85,188,854A/G—uncertain significance
rs189642619915:85,188,871C/G—likely benign
rs79704499215:85,188,882G/Astop gainedpathogenic
rs148219638415:85,188,886C/T—likely pathogenic
rs37169889315:85,188,888A/G—conflicting classifications of pathogenicity
rs115743567515:85,188,890C/G—uncertain significance
rs159605038615:85,188,904A/T—pathogenic
rs56981430715:85,188,938C/T—uncertain significance
rs77944945115:85,188,941C/T—uncertain significance
rs53850751515:85,188,942G/A—uncertain significance
rs76684392115:85,188,952C/T—likely benign
rs37362647015:85,188,953G/A—uncertain significance
rs77349755515:85,188,958C/G—uncertain significance
rs189643243015:85,188,959C/T—pathogenic
rs37593845915:85,188,967C/T—likely benign
rs77698272115:85,188,969G/A—uncertain significance
rs214183699715:85,188,983C/T—uncertain significance
rs37003755215:85,188,989C/T—conflicting classifications of pathogenicity
rs37332304115:85,188,990G/A—uncertain significance
rs227143215:85,188,994T/C—benign
rs37381944615:85,189,018G/A—likely benign
rs250537250815:85,189,020C/T—uncertain significance
rs123626061015:85,189,045C/T—likely benign
rs76993343115:85,189,077C/T—conflicting classifications of pathogenicity
rs77564718915:85,189,078G/A—likely benign
rs56132084715:85,189,396G/A—likely benign
rs20165896315:85,189,409C/T—uncertain significance
rs104054019615:85,189,417G/A—uncertain significance
rs55024824015:85,189,425C/T—likely benign
rs75144256215:85,189,436G/A—uncertain significance
rs76703580315:85,189,438G/C—uncertain significance
rs36879339315:85,189,451C/T—uncertain significance
rs20144784615:85,189,452G/A—likely benign
rs227143115:85,189,464T/G—benign
rs250537492015:85,189,467G/A—likely benign
rs78080491415:85,189,473C/T—likely benign
rs77273714415:85,189,490C/T—conflicting classifications of pathogenicity

Showing 100 of 161 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.