WDR4

WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit

Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]

Known Variants217 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14980684221:44,270,175G/A—likely benign
rs77186141421:44,270,179C/G—uncertain significance
rs14467291221:44,270,180C/T—likely benign
rs76619449621:44,270,183C/T—likely benign
rs75952088421:44,270,185G/T—uncertain significance
rs75856803421:44,270,196T/C—uncertain significance
rs54013895321:44,270,203G/T—uncertain significance
rs74645851121:44,270,207G/T—uncertain significance
rs251695856721:44,270,208T/C—uncertain significance
rs37043100921:44,270,209C/T—conflicting classifications of pathogenicity
rs53088651721:44,270,210G/A—likely benign
rs14851969221:44,270,215C/T—uncertain significance
rs75946096621:44,270,219C/G—likely benign
rs76518273521:44,270,220G/A—uncertain significance
rs658625021:44,270,229C/T—benign
rs37540360421:44,270,230G/A—uncertain significance
rs78155723221:44,270,233G/A—uncertain significance
rs75077079221:44,270,235C/T—uncertain significance
rs20101310421:44,270,239G/A—pathogenic
rs14650371121:44,270,242T/G—uncertain significance
rs20183774321:44,270,248C/T—uncertain significance
rs14112886321:44,270,249T/C—likely benign
rs20137464721:44,270,250A/G—uncertain significance
rs14334493621:44,270,261C/T—likely benign
rs14673652021:44,270,267C/G—uncertain significance
rs205778573921:44,270,269C/T—uncertain significance
rs36877710021:44,270,276C/T—benign
rs251695943421:44,270,278T/G—uncertain significance
rs132083022421:44,270,279C/G—uncertain significance
rs76422115321:44,270,284G/C—uncertain significance
rs205778652321:44,270,291G/T—likely benign
rs20151148221:44,270,292G/A—uncertain significance
rs36953489121:44,270,297G/A—likely benign
rs53047635821:44,270,303G/A—likely benign
rs14018684421:44,270,307G/T—uncertain significance
rs1711551521:44,270,309G/A—benign
rs13798459721:44,270,327G/T—uncertain significance
rs14902297621:44,270,342G/A—likely benign
rs77444415521:44,270,344C/A—uncertain significance
rs14303643521:44,270,345G/A—likely benign
rs13852451321:44,270,351G/A—likely benign
rs76691841821:44,270,353C/T—uncertain significance
rs143906050421:44,270,355G/A—uncertain significance
rs56803719421:44,270,356T/C—likely benign
rs251696033021:44,270,368A/G—likely benign
rs77329616321:44,270,370G/A—likely benign
rs658625121:44,270,402C/G—benign
rs88326921:44,270,501G/A—benign
rs813317921:44,272,327G/A—benign
rs76686829221:44,272,354C/T—likely benign
rs37769495121:44,272,355G/A—likely benign
rs75571810921:44,272,357G/A—likely benign
rs14412903621:44,272,374T/C—likely benign
rs14729424021:44,272,389G/A—conflicting classifications of pathogenicity
rs53115030921:44,272,416C/T—uncertain significance
rs251696897521:44,272,434A/T—uncertain significance
rs11293732321:44,272,443G/A—benign
rs11343736021:44,272,608A/G—benign
rs76912463721:44,273,666T/C—likely benign
rs36932145221:44,273,670G/A—likely benign
rs77621195421:44,273,676C/T—uncertain significance
rs14686327721:44,273,691G/A—benign
rs37002405321:44,273,698G/C—uncertain significance
rs95015460321:44,273,724C/T—likely benign
rs6172940621:44,273,763G/A—benign
rs13931094021:44,273,772G/A—likely benign
rs76477405621:44,273,778C/G—likely benign
rs14955355021:44,273,784G/A—likely benign
rs76283653521:44,273,788T/C—likely benign
rs14606631621:44,273,793C/T—likely benign
rs13996374221:44,273,813C/A—uncertain significance
rs14352654221:44,273,817C/T—likely benign
rs251697576021:44,273,829G/A—likely benign
rs14844342421:44,273,831C/T—likely benign
rs77252933421:44,273,832G/A—likely benign
rs37574101321:44,273,833T/A—uncertain significance
rs133448992721:44,273,855C/T—uncertain significance
rs20022984121:44,273,856A/G—likely benign
rs1573621:44,273,858G/A—benign
rs37755894121:44,273,866G/A—likely benign
rs19971563721:44,273,871G/A—benign
rs46012821:44,274,007T/A—benign
rs229866621:44,274,642G/A—benign
rs37710668021:44,274,659C/T—likely benign
rs75756052721:44,274,660G/A—likely benign
rs55385312821:44,274,661C/T—likely benign
rs77419902121:44,274,663G/A—likely benign
rs36770477921:44,274,668T/C—uncertain significance
rs37018675221:44,274,673C/T—uncertain significance
rs13819475221:44,274,674G/A—likely benign
rs251697967721:44,274,681A/G—uncertain significance
rs14079000221:44,274,686C/T—likely benign
rs143101843821:44,274,692G/A—likely benign
rs104453382621:44,274,714G/A—uncertain significance
rs136478654621:44,274,720C/T—uncertain significance
rs19971356521:44,274,726G/A—likely benign
rs77087152021:44,274,727C/T—uncertain significance
rs37551893321:44,274,728G/A—likely benign
rs14956980521:44,274,750A/C—likely benign
rs110783121:44,274,845G/A—benign

Showing 100 of 217 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.