LARGE1

LARGE xylosyl- and glucuronyltransferase 1

Summary

This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]

Known Variants816 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54700630022:33,464,858T/C——
rs54020536822:33,465,966G/A——
rs241316522:33,486,286A/Cintergenic variant—
rs74379322:33,561,746T/C3 prime UTR variant—
rs482113222:33,566,587C/Tdownstream gene variant—
rs180182022:33,669,178T/C—likely benign
rs91850403422:33,669,184C/T—uncertain significance
rs1154410122:33,669,212T/C—benign
rs88605745522:33,669,415T/C—uncertain significance
rs192853165922:33,669,418A/G—uncertain significance
rs89230542722:33,669,444C/T—uncertain significance
rs1699203422:33,669,492G/C—benign
rs7766350522:33,669,557C/T—benign
rs14950824122:33,669,564G/A—uncertain significance
rs74824824022:33,669,580T/C—uncertain significance
rs77806300522:33,669,615C/T—uncertain significance
rs14415030322:33,669,617G/A—likely benign
rs88605745622:33,669,643T/A—uncertain significance
rs11633581322:33,669,673T/C—benign
rs76009274522:33,669,714C/T—uncertain significance
rs37336187522:33,669,774A/C—uncertain significance
rs77623590322:33,669,833G/A—uncertain significance
rs87894515622:33,669,847C/T—uncertain significance
rs88605745722:33,669,912A/G—uncertain significance
rs88605745822:33,669,914C/T—uncertain significance
rs88605745922:33,669,934T/A—uncertain significance
rs88605746022:33,669,958G/A—uncertain significance
rs1699203622:33,670,206C/T—likely benign
rs78003036722:33,670,227G/A—uncertain significance
rs55126696722:33,670,258G/A—uncertain significance
rs7339951222:33,670,259G/T—benign
rs56727876522:33,670,313G/T—uncertain significance
rs78075271622:33,670,413C/T—likely benign
rs75528320722:33,670,420T/C—uncertain significance
rs254654353622:33,670,422G/A—likely benign
rs13985349422:33,670,427C/T—uncertain significance
rs11424656222:33,670,428G/A—likely benign
rs20002487522:33,670,429G/C—uncertain significance
rs254654362622:33,670,431T/C—likely benign
rs254654366922:33,670,437A/G—likely benign
rs118589663522:33,670,441T/C—uncertain significance
rs125440926822:33,670,450G/T—uncertain significance
rs74691676722:33,670,456C/T—uncertain significance
rs77777330322:33,670,458G/A—likely benign
rs74700383422:33,670,462C/T—uncertain significance
rs77128303922:33,670,463G/A—uncertain significance
rs141613138422:33,670,465C/T—uncertain significance
rs140633029622:33,670,467G/C—likely benign
rs77695468722:33,670,471A/G—uncertain significance
rs192877354522:33,670,472T/C—uncertain significance
rs75942787922:33,670,476C/T—conflicting classifications of pathogenicity
rs214580143022:33,670,478G/C—uncertain significance
rs76509218222:33,670,488T/C—likely benign
rs254654403022:33,670,494G/A—likely benign
rs192878345222:33,670,503G/C—likely benign
rs192878553422:33,670,509G/C—uncertain significance
rs37690756822:33,670,513C/T—uncertain significance
rs148338374422:33,670,514G/C—uncertain significance
rs100083502722:33,670,515G/A—likely benign
rs192879165822:33,670,518T/C—likely benign
rs254654426022:33,670,522T/C—uncertain significance
rs145636042722:33,670,524G/A—likely benign
rs126362726222:33,670,531C/G—uncertain significance
rs192879573422:33,670,532G/A—uncertain significance
rs141249252522:33,670,533G/C—uncertain significance
rs160218971422:33,670,536C/T—likely benign
rs135832045122:33,670,542A/G—likely benign
rs75671193222:33,670,545G/A—likely benign
rs76717745222:33,670,548G/A—likely benign
rs75005286122:33,670,551G/A—likely benign
rs75537911722:33,670,554G/A—likely benign
rs77933351322:33,670,564G/A—uncertain significance
rs254654454222:33,670,565G/C—uncertain significance
rs74866566222:33,670,568T/C—uncertain significance
rs77807660522:33,670,579T/A—uncertain significance
rs1772217222:33,670,584G/A—likely benign
rs20164292422:33,670,585T/C—uncertain significance
rs254654471122:33,670,587G/A—likely benign
rs214580298222:33,670,593C/T—likely benign
rs160219022422:33,670,595C/A—pathogenic
rs20021286822:33,670,597A/G—uncertain significance
rs99629054422:33,670,605A/G—likely benign
rs254654486522:33,670,606T/C—uncertain significance
rs254654490122:33,670,614G/C—likely benign
rs77536800522:33,670,616A/G—likely benign
rs254654492422:33,670,617G/A—likely benign
rs214580331722:33,670,618A/C—likely benign
rs160219040522:33,670,621A/G—likely benign
rs254654497322:33,670,622C/A—likely benign
rs254654499522:33,670,626A/T—likely benign
rs192883092922:33,670,628C/T—likely benign
rs4128259722:33,670,679G/A—benign
rs4128259922:33,670,708C/G—likely benign
rs5995724822:33,670,719C/T—benign
rs1699204422:33,670,875C/T—likely benign
rs207592122:33,672,894T/C—likely benign
rs4130257922:33,673,010G/A—benign
rs254655309522:33,673,026G/A—likely benign
rs77005997822:33,673,030G/T—likely benign
rs125203789422:33,673,033C/A—likely benign

Showing 100 of 816 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.