CWF19L1

CWF19 like cell cycle control factor 1

Summary

This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Known Variants90 total

rsidPosition (GRCh37)AllelesClassClinVar
rs792294610:101,993,024C/T—benign
rs37571789710:101,993,030C/T—uncertain significance
rs3549071410:101,993,033T/C—benign
rs75952794310:101,993,058T/C—uncertain significance
rs213426863610:101,993,078C/T—uncertain significance
rs11771347110:101,993,090T/A—benign
rs13969328510:101,995,477T/G—likely benign
rs14973462310:101,995,501T/G—likely benign
rs249314127210:101,995,502G/A—uncertain significance
rs130215048110:101,995,506C/T—uncertain significance
rs213427263810:101,995,515G/A—likely pathogenic
rs249314140810:101,995,523T/C—pathogenic
rs77691140410:101,996,599T/C—benign
rs36788676410:101,996,600G/T—likely benign
rs133301567210:101,996,698G/A—uncertain significance
rs249314592510:101,996,714G/C—uncertain significance
rs249314595210:101,996,719G/A—uncertain significance
rs18500567010:101,996,733G/T—likely benign
rs126844213810:101,997,881C/T—likely benign
rs155490276010:101,997,883C/A—likely pathogenic
rs184651204710:101,997,919G/A—pathogenic
rs184651475010:101,997,963C/A—pathogenic
rs14231249510:101,997,968T/C—likely benign
rs117648732510:101,997,970T/C—uncertain significance
rs184651594110:101,997,988A/C—uncertain significance
rs142447808610:101,997,990T/G—likely pathogenic
rs19966661710:102,003,456T/C—uncertain significance
rs77956638810:102,003,462C/A—uncertain significance
rs13838230910:102,003,540T/C—likely benign
rs1766835710:102,003,906G/Cupstream gene variant—
rs58778032610:102,005,555C/Tsplice region variantpathogenic
rs55740778910:102,005,556G/A—uncertain significance
rs184679959310:102,005,571G/A—likely pathogenic
rs87925565310:102,005,574T/Astop gainedpathogenic
rs20054478210:102,005,577G/A—uncertain significance
rs15125062010:102,005,580G/A—benign
rs249317413910:102,005,589A/G—uncertain significance
rs74778715210:102,005,598C/G—uncertain significance
rs249317426310:102,005,603C/T—uncertain significance
rs56072493810:102,005,615C/T—uncertain significance
rs1226934510:102,005,620C/T—benign
rs105752075710:102,005,672T/C—pathogenic
rs76373041510:102,006,578T/C—uncertain significance
rs19958147710:102,006,583G/A—uncertain significance
rs20069640110:102,006,609G/A—likely benign
rs707361010:102,006,625G/A—benign
rs249317826810:102,006,655A/G—uncertain significance
rs1711278710:102,006,681C/T—benign
rs184697897010:102,010,004C/T—likely pathogenic
rs158962251710:102,010,019G/T—uncertain significance
rs76117412010:102,010,028C/Amissense variantpathogenic
rs143640440610:102,010,031T/C—uncertain significance
rs249319267910:102,010,046A/G—uncertain significance
rs77269725910:102,010,048C/T—conflicting classifications of pathogenicity
rs75036103810:102,010,049G/A—uncertain significance
rs1226533310:102,011,211A/Gdownstream gene variant—
rs15023940410:102,013,179G/Astop gainedpathogenic
rs77900718310:102,013,186A/C—likely benign
rs249320142510:102,013,204C/A—uncertain significance
rs54561793510:102,013,221A/G—likely benign
rs148811929710:102,013,227A/G—uncertain significance
rs74609766910:102,013,244G/A—likely benign
rs118822414010:102,013,261C/G—uncertain significance
rs213430736210:102,013,281T/A—pathogenic
rs75651179710:102,013,289A/T—uncertain significance
rs227096210:102,016,044C/T—benign
rs123639222910:102,016,071A/C—likely pathogenic
rs7969738110:102,016,086A/T—likely benign
rs53703374210:102,016,106C/T—uncertain significance
rs1711280510:102,016,148A/G—benign
rs20123058210:102,016,174C/A—likely pathogenic
rs155490565210:102,016,185A/G—uncertain significance
rs77434040510:102,016,197T/G—uncertain significance
rs36769486910:102,016,210T/G—uncertain significance
rs54922609310:102,016,230C/T—uncertain significance
rs75979994010:102,019,987T/C—uncertain significance
rs13874819310:102,020,007C/T—likely benign
rs76447642510:102,020,015A/G—likely benign
rs133099274010:102,020,722C/A—likely pathogenic
rs123709992710:102,020,788A/G—uncertain significance
rs74948515110:102,020,792A/G—uncertain significance
rs249322378010:102,020,793C/A—uncertain significance
rs134649723810:102,021,735C/T—likely pathogenic
rs56962811110:102,021,739A/G—likely benign
rs249322663510:102,021,760A/C—uncertain significance
rs36757805410:102,021,762T/A—uncertain significance
rs76903689110:102,021,807C/G—likely pathogenic
rs3476250810:102,024,258C/Tintron variant—
rs184764356410:102,027,322A/G—uncertain significance
rs141867415610:102,027,344G/C—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.