CBLIF

cobalamin binding intrinsic factor

Summary

This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]

Known Variants130 total

rsidPosition (GRCh37)AllelesClassClinVar
rs57527214711:59,596,870C/T—uncertain significance
rs88604840111:59,596,901A/C—uncertain significance
rs15085740611:59,596,981G/A—likely benign
rs14898967711:59,596,990G/C—uncertain significance
rs146099721311:59,597,000G/C—uncertain significance
rs141707548811:59,599,144C/T—likely benign
rs15000571311:59,599,153T/A—uncertain significance
rs76627011911:59,599,163G/A—uncertain significance
rs76731064811:59,599,180A/G—conflicting classifications of pathogenicity
rs14407082811:59,599,205C/T—likely benign
rs37090237511:59,599,213G/A—uncertain significance
rs13991877311:59,599,214C/T—uncertain significance
rs19965506111:59,599,235C/T—uncertain significance
rs53742461711:59,599,236G/A—uncertain significance
rs75947218711:59,599,248A/T—likely benign
rs75250865311:59,599,251T/C—likely benign
rs76029810811:59,599,256T/C—uncertain significance
rs37083376511:59,599,272A/G—conflicting classifications of pathogenicity
rs37554983011:59,599,279A/G—likely benign
rs54161114211:59,599,283T/C—uncertain significance
rs77120472111:59,603,287A/G—uncertain significance
rs20187192611:59,603,290G/C—uncertain significance
rs249569352111:59,603,296T/C—uncertain significance
rs77199279111:59,603,299C/T—uncertain significance
rs14352687211:59,603,300G/A—uncertain significance
rs89374842311:59,603,303G/C—uncertain significance
rs76829588711:59,603,319A/G—likely benign
rs76135163511:59,603,336C/A—uncertain significance
rs76261472911:59,603,352A/G—likely benign
rs76600484711:59,603,353T/A—uncertain significance
rs14674456511:59,603,357T/C—uncertain significance
rs75427461911:59,603,363C/T—likely benign
rs286780211:59,603,364G/A—benign
rs14249134411:59,603,390G/A—likely benign
rs77701076611:59,603,401A/G—uncertain significance
rs130249966611:59,603,424A/C—likely benign
rs15092643911:59,603,444G/A—conflicting classifications of pathogenicity
rs20057195511:59,603,490G/T—benign
rs54347151411:59,603,696A/G——
rs55866011:59,603,894A/Gintron variant—
rs76902764711:59,604,633G/C—likely benign
rs88604840211:59,604,664T/C—uncertain significance
rs88604840311:59,604,684C/G—uncertain significance
rs13850437111:59,604,689C/G—conflicting classifications of pathogenicity
rs75613987911:59,604,740C/G—uncertain significance
rs3586747111:59,604,754T/C—benign
rs186646808911:59,604,764T/A—uncertain significance
rs37743241811:59,604,768C/T—benign
rs54243188211:59,604,769G/A—conflicting classifications of pathogenicity
rs20126136711:59,604,783G/T—uncertain significance
rs7727890211:59,608,380A/G—benign
rs37589386811:59,608,606A/C—likely benign
rs76428071111:59,608,607C/T—likely benign
rs19996680611:59,608,608G/A—likely benign
rs159085940611:59,608,648C/T—likely pathogenic
rs78071602611:59,608,677C/T—uncertain significance
rs77474221711:59,608,694A/T—uncertain significance
rs145828542511:59,608,705C/A—uncertain significance
rs37598090911:59,608,729C/T—uncertain significance
rs186652441311:59,608,735C/T—uncertain significance
rs77579594911:59,608,741C/G—uncertain significance
rs132914244011:59,608,766G/T—likely benign
rs88604840411:59,608,785A/G—uncertain significance
rs14896021111:59,608,814G/T—likely benign
rs186654553411:59,609,917T/A—uncertain significance
rs76611770111:59,609,930G/A—uncertain significance
rs20085649211:59,609,945A/C—uncertain significance
rs37059449311:59,609,959G/A—likely benign
rs14808131511:59,609,972G/A—conflicting classifications of pathogenicity
rs78150942311:59,609,981G/T—uncertain significance
rs74840910311:59,609,989G/A—likely benign
rs14191773411:59,610,009A/G—likely benign
rs159086011111:59,610,046A/C—likely benign
rs76040486111:59,610,048C/T—conflicting classifications of pathogenicity
rs86841506511:59,610,053G/C—uncertain significance
rs20047332411:59,610,054G/A—uncertain significance
rs57170582711:59,610,060C/T—uncertain significance
rs75981025211:59,610,071G/A—uncertain significance
rs13935921111:59,610,075A/G—likely benign
rs7448571311:59,610,462A/G—benign
rs249571383611:59,610,481C/T—likely benign
rs90482529011:59,610,487C/T—likely benign
rs36769632411:59,610,488A/G—likely benign
rs76135018611:59,610,491C/A—likely benign
rs121370290811:59,610,500C/G—likely pathogenic
rs79606450811:59,610,525G/A—pathogenic
rs75628201611:59,610,537T/G—uncertain significance
rs37147622011:59,610,540A/T—uncertain significance
rs15063934411:59,610,560C/T—uncertain significance
rs186655875911:59,610,561G/A—pathogenic
rs15088418111:59,610,581G/A—conflicting classifications of pathogenicity
rs37530903211:59,610,583G/T—likely benign
rs76158739611:59,610,595G/A—likely benign
rs116408534011:59,610,600G/T—uncertain significance
rs18095060411:59,610,605A/G—uncertain significance
rs75644715111:59,610,627G/A—likely benign
rs146097366111:59,611,332G/A—likely benign
rs20090902211:59,611,334G/A—likely benign
rs36996039011:59,611,342G/A—conflicting classifications of pathogenicity
rs11596482711:59,611,361C/T—benign

Showing 100 of 130 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.