IGLL1

immunoglobulin lambda like polypeptide 1

Summary

The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants188 total

rsidPosition (GRCh37)AllelesClassClinVar
rs814278122:23,915,243C/T—benign
rs106441722:23,915,340T/G—benign
rs814194022:23,915,370G/A—benign
rs76492146422:23,915,457G/A—uncertain significance
rs76275919922:23,915,462T/C—likely benign
rs54287755822:23,915,471G/A—benign
rs77915975122:23,915,476C/T—uncertain significance
rs14735635522:23,915,477C/T—likely benign
rs75873535322:23,915,478G/A—uncertain significance
rs13949192522:23,915,479T/A—conflicting classifications of pathogenicity
rs192486848822:23,915,481T/A—uncertain significance
rs74758880322:23,915,486C/T—likely benign
rs94168659722:23,915,487A/G—uncertain significance
rs77155290822:23,915,488C/T—uncertain significance
rs77633027322:23,915,489G/A—likely benign
rs36930757122:23,915,490G/C—uncertain significance
rs148730071522:23,915,500C/T—uncertain significance
rs106441822:23,915,501G/T—uncertain significance
rs77266005922:23,915,505A/G—uncertain significance
rs15133796422:23,915,507G/A—likely benign
rs53082106722:23,915,510C/A—uncertain significance
rs75290080822:23,915,511T/C—uncertain significance
rs813812222:23,915,529C/T—likely benign
rs55313270522:23,915,535C/T—uncertain significance
rs74538205722:23,915,536T/G—likely benign
rs156906910522:23,915,542G/A—uncertain significance
rs19990682922:23,915,545C/T—uncertain significance
rs7508827722:23,915,546G/A—benign
rs14659237522:23,915,549C/T—likely benign
rs76155118622:23,915,550G/A—uncertain significance
rs14130844522:23,915,553A/G—uncertain significance
rs77314719122:23,915,559A/C—uncertain significance
rs76542661322:23,915,568C/T—uncertain significance
rs212369569622:23,915,570G/A—likely benign
rs37402652622:23,915,573C/T—likely benign
rs106441922:23,915,574G/A—likely benign
rs19971821522:23,915,575C/A—uncertain significance
rs116150054422:23,915,576G/A—likely benign
rs251739966822:23,915,580T/C—uncertain significance
rs148261207822:23,915,582G/C—uncertain significance
rs106442122:23,915,583T/C—benign
rs7451921722:23,915,588G/A—benign
rs251739970222:23,915,598G/C—uncertain significance
rs37413255422:23,915,600G/A—likely benign
rs14807134922:23,915,603C/T—benign
rs14176663122:23,915,604G/A—uncertain significance
rs251739973522:23,915,606G/A—likely benign
rs11190375222:23,915,610A/T—likely benign
rs13879929622:23,915,617C/T—uncertain significance
rs77568076022:23,915,618G/A—likely benign
rs13957170322:23,915,620C/T—likely benign
rs53683934322:23,915,627G/T—likely benign
rs14517686422:23,915,631G/A—likely benign
rs160228711922:23,915,635T/A—uncertain significance
rs13800710922:23,915,637C/A—uncertain significance
rs76675274122:23,915,641C/T—uncertain significance
rs128482722222:23,915,649C/A—uncertain significance
rs26760618922:23,915,651G/C—likely benign
rs7315703122:23,915,652A/G—likely benign
rs37767820322:23,915,657C/T—likely benign
rs11277519422:23,915,658G/A—conflicting classifications of pathogenicity
rs56083318822:23,915,669C/T—uncertain significance
rs106442222:23,915,670G/Amissense variantpathogenic
rs14384974922:23,915,672A/G—benign
rs106442322:23,915,675A/G—likely benign
rs37456531322:23,915,680C/T—uncertain significance
rs160228724022:23,915,682T/C—likely benign
rs37700906622:23,915,686T/C—uncertain significance
rs212369606722:23,915,696C/T—likely benign
rs106442422:23,915,702A/G—likely benign
rs76691915722:23,915,703G/A—uncertain significance
rs130450506422:23,915,710T/G—uncertain significance
rs14295933522:23,915,718A/G—uncertain significance
rs53780962622:23,915,727G/C—uncertain significance
rs75218394122:23,915,728A/G—uncertain significance
rs14612712122:23,915,732C/T—likely benign
rs74684342622:23,915,733G/A—uncertain significance
rs18417381322:23,915,735C/T—likely benign
rs14238441422:23,915,736G/T—uncertain significance
rs20072672322:23,915,739A/T—uncertain significance
rs14378013922:23,915,745G/A—conflicting classifications of pathogenicity
rs37371207222:23,915,750C/T—likely benign
rs53924047222:23,915,751G/A—uncertain significance
rs14683145722:23,915,753G/C—likely benign
rs57536805822:23,915,754G/A—uncertain significance
rs76570427022:23,915,757G/T—uncertain significance
rs14049422622:23,915,759G/A—likely benign
rs212369624222:23,915,760G/T—uncertain significance
rs14998623722:23,915,761C/T—conflicting classifications of pathogenicity
rs37629377322:23,915,768C/T—likely benign
rs102596036122:23,915,772C/T—uncertain significance
rs78118090722:23,915,775G/T—uncertain significance
rs75021132922:23,915,779G/A—likely benign
rs74826833122:23,915,790G/C—likely benign
rs74725730022:23,915,792G/A—likely benign
rs6117331822:23,915,876C/T—benign
rs575990522:23,915,889A/G—benign
rs5595090122:23,915,937G/C—benign
rs11590793422:23,916,935C/T—benign
rs212369806522:23,917,139G/A—likely benign

Showing 100 of 188 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.