MANBA

mannosidase beta

Summary

This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]

Known Variants658 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76650904:103,551,603A/Gdownstream gene variant—
rs126443814:103,552,430A/C——
rs1389993204:103,552,693C/T—likely benign
rs5628382604:103,552,698A/G—uncertain significance
rs10540374:103,552,709C/T—benign
rs10229958794:103,552,711C/G—uncertain significance
rs10250331564:103,552,767C/T—uncertain significance
rs800648034:103,552,777T/A—likely benign
rs40134:103,552,813C/T—benign
rs40194:103,552,830G/A—benign
rs76722684:103,552,858C/T—benign
rs17293834304:103,552,886A/T—uncertain significance
rs785148704:103,552,897T/C—benign
rs8860589664:103,552,900T/C—uncertain significance
rs8860589674:103,553,030T/C—uncertain significance
rs1463741854:103,553,042C/T—uncertain significance
rs10540294:103,553,053G/A—benign
rs31945854:103,553,090A/G—benign
rs1998812614:103,553,206A/C—uncertain significance
rs1457560794:103,553,221A/G—uncertain significance
rs14093961314:103,553,222T/C—uncertain significance
rs7523965154:103,553,224T/C—uncertain significance
rs1910398294:103,553,241A/G—likely benign
rs17294029344:103,553,242T/C—uncertain significance
rs7465067174:103,553,253C/T—likely benign
rs15788527474:103,553,262A/G—likely benign
rs7567322974:103,553,277C/T—likely benign
rs17294063344:103,553,293A/G—uncertain significance
rs7497627784:103,553,298A/T—likely benign
rs24767044904:103,553,301T/C—likely benign
rs2009990224:103,553,303G/A—uncertain significance
rs24767045294:103,553,307C/T—likely benign
rs5365547724:103,553,312C/T—uncertain significance
rs3760128484:103,553,314G/T—uncertain significance
rs21101854614:103,553,315T/G—uncertain significance
rs2001754414:103,553,318T/G—uncertain significance
rs24767046734:103,553,328A/G—likely benign
rs13828386644:103,553,338A/C—uncertain significance
rs24767047554:103,553,343C/T—likely benign
rs17294120344:103,553,365A/C—uncertain significance
rs1382209364:103,553,366A/G—likely benign
rs758266584:103,553,372C/T—likely benign
rs1828692724:103,553,381C/T—uncertain significance
rs7807009934:103,553,382G/A—likely benign
rs3719625904:103,553,383A/T—uncertain significance
rs12468574264:103,553,384C/T—uncertain significance
rs3676927614:103,553,416T/A—uncertain significance
rs24767052904:103,553,421T/C—likely benign
rs3754663844:103,553,441G/A—uncertain significance
rs17294193484:103,553,442A/G—likely benign
rs2008350974:103,553,447G/A—likely benign
rs24767055804:103,553,457A/G—likely benign
rs7354034:103,553,543C/T—benign
rs7354044:103,553,665G/A—benign
rs10773584:103,553,926C/Tintron variant—
rs7453113414:103,554,529C/T—likely benign
rs50264704:103,554,722A/T——
rs50264734:103,554,793A/Gintron variant—
rs68133224:103,555,619C/G—benign
rs68390644:103,555,676T/C—benign
rs22726954:103,555,803G/C—benign
rs22726964:103,555,821G/A—benign
rs1487195554:103,555,926C/T—benign
rs3688539584:103,555,927G/A—likely benign
rs17295405344:103,555,930A/G—likely benign
rs13384641384:103,555,931T/A—likely benign
rs24767158354:103,555,934C/T—likely benign
rs7588596974:103,555,954C/T—likely benign
rs7782655934:103,555,955G/A—uncertain significance
rs24767160574:103,555,957C/T—likely benign
rs21101883884:103,555,959T/G—uncertain significance
rs7472366754:103,555,971C/T—uncertain significance
rs7811895874:103,555,972G/A—likely benign
rs3725957644:103,555,981C/T—likely benign
rs3764102194:103,555,982G/A—uncertain significance
rs22726974:103,555,992A/G—benign
rs21101884784:103,555,997T/A—uncertain significance
rs7671827134:103,556,002G/A—conflicting classifications of pathogenicity
rs21101885004:103,556,003T/C—uncertain significance
rs1113537914:103,556,004T/C—conflicting classifications of pathogenicity
rs24767164244:103,556,005G/A—likely benign
rs7656156554:103,556,008C/T—likely benign
rs1163405014:103,556,009G/A—uncertain significance
rs7589424934:103,556,026G/A—likely benign
rs12425845204:103,556,044G/C—likely benign
rs2017797624:103,556,049C/A—conflicting classifications of pathogenicity
rs5526164484:103,556,050C/T—likely benign
rs24767167244:103,556,062C/T—likely benign
rs1474285144:103,556,064G/A—uncertain significance
rs5385840644:103,556,078C/G—uncertain significance
rs7740689924:103,556,091A/G—conflicting classifications of pathogenicity
rs7479860554:103,556,095A/G—likely benign
rs24767171714:103,556,107C/T—likely benign
rs14860108904:103,556,113A/G—likely benign
rs1422484154:103,556,114A/T—likely benign
rs3708341024:103,556,115G/T—likely benign
rs17295545014:103,556,116G/T—pathogenic
rs24767172874:103,556,119G/A—likely benign
rs24767173524:103,556,128T/G—likely benign
rs24767173614:103,556,130C/G—uncertain significance

Showing 100 of 658 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.