NUMA1

nuclear mitotic apparatus protein 1

Summary

This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

Known Variants166 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11413479911:71,714,990G/A—likely benign
rs77162683211:71,715,013G/A—uncertain significance
rs76419406111:71,715,027C/T—uncertain significance
rs145453755711:71,715,075C/T—uncertain significance
rs20138560511:71,715,138C/T—uncertain significance
rs19969906711:71,715,139G/A—uncertain significance
rs36813840611:71,715,693G/A—uncertain significance
rs249615552911:71,715,726C/T—uncertain significance
rs3568127011:71,715,733G/A—likely benign
rs130535149911:71,715,752G/T—likely benign
rs37112470211:71,715,761C/G—uncertain significance
rs1153864311:71,715,796G/A—uncertain significance
rs117553131211:71,716,295T/C—uncertain significance
rs103806884611:71,716,353G/A—uncertain significance
rs77196608111:71,716,380C/T—uncertain significance
rs76897269511:71,717,091C/T—likely benign
rs20032145911:71,717,109C/G—uncertain significance
rs74562579311:71,717,120G/A—uncertain significance
rs37142804011:71,717,183C/T—uncertain significance
rs74638415211:71,717,263C/G—uncertain significance
rs3558642911:71,717,267A/G—likely benign
rs143109927311:71,717,293T/A—uncertain significance
rs794943011:71,717,300C/T—benign
rs56231747711:71,717,301A/T—uncertain significance
rs76900847811:71,718,269C/T—uncertain significance
rs77160069711:71,718,273G/A—uncertain significance
rs159086520011:71,718,274A/G—likely benign
rs77305613311:71,718,275C/T—uncertain significance
rs76025795111:71,718,276G/A—uncertain significance
rs37527694511:71,718,285G/A—uncertain significance
rs14373096711:71,718,294G/C—uncertain significance
rs14808229711:71,718,297C/T—uncertain significance
rs6174421311:71,718,298C/T—benign
rs14721088811:71,718,313G/A—likely benign
rs6174420411:71,718,315C/T—likely benign
rs36786445111:71,718,330G/C—uncertain significance
rs76959825311:71,718,345G/A—uncertain significance
rs52939325011:71,718,357G/A—uncertain significance
rs101423611611:71,718,407G/A—uncertain significance
rs14958822611:71,718,413C/T—likely benign
rs20023340611:71,718,414G/A—conflicting classifications of pathogenicity
rs76536778911:71,718,471G/A—uncertain significance
rs105455280211:71,719,770A/G—uncertain significance
rs89415888311:71,719,785A/G—uncertain significance
rs37266806411:71,719,876G/C—uncertain significance
rs78016028211:71,720,036G/C—uncertain significance
rs37659922311:71,720,239C/T—likely benign
rs75524455411:71,720,390C/T—uncertain significance
rs20166554211:71,720,391G/A—uncertain significance
rs37378372411:71,720,413G/A—likely benign
rs143815705311:71,721,840T/G—uncertain significance
rs77626771811:71,724,009C/T—uncertain significance
rs54510648511:71,724,041C/T—uncertain significance
rs76412332711:71,724,123A/G—uncertain significance
rs3556791211:71,724,220C/T—benign
rs140193427811:71,724,355C/A—uncertain significance
rs138520137211:71,724,423C/T—uncertain significance
rs147773994211:71,724,476C/T—uncertain significance
rs37775033811:71,724,489G/C—uncertain significance
rs74652551311:71,724,505G/A—likely benign
rs140401611811:71,724,507G/A—uncertain significance
rs54635751411:71,724,557G/A—uncertain significance
rs75776398711:71,724,594C/T—uncertain significance
rs125157650711:71,724,614C/T—uncertain significance
rs20054123311:71,724,622C/T—likely benign
rs145466472911:71,724,626G/A—uncertain significance
rs37729360711:71,724,656C/T—uncertain significance
rs130409842811:71,724,677C/T—uncertain significance
rs75676907911:71,724,704C/T—uncertain significance
rs3534286611:71,724,733C/T—benign
rs6174919211:71,724,760C/T—likely benign
rs53524676511:71,724,778G/A—likely benign
rs75562379811:71,724,833C/G—pathogenic
rs76923561211:71,724,899C/T—likely benign
rs20160909811:71,724,945G/T—uncertain significance
rs75833696011:71,724,963G/A—uncertain significance
rs74869966611:71,725,080G/A—uncertain significance
rs74739131011:71,725,094G/A—uncertain significance
rs7917080011:71,725,144T/G—benign
rs75498902711:71,725,173G/A—uncertain significance
rs14243251911:71,725,236A/G—benign
rs14074134011:71,725,245C/T—uncertain significance
rs20029828911:71,725,281G/T—uncertain significance
rs14157441211:71,725,326C/A—uncertain significance
rs77193009511:71,725,379G/A—likely benign
rs15047900511:71,725,397G/A—benign
rs77844295811:71,725,432G/T—uncertain significance
rs249575359111:71,725,445T/C—uncertain significance
rs20091149711:71,725,451C/T—uncertain significance
rs37033975211:71,725,452G/A—uncertain significance
rs76885527811:71,725,583A/G—uncertain significance
rs76121948811:71,725,601C/T—uncertain significance
rs14237228411:71,725,612A/G—likely benign
rs1123541911:71,725,617C/T—benign
rs14918454111:71,725,634C/T—benign
rs249578568811:71,725,646T/C—uncertain significance
rs77337325811:71,725,701C/T—uncertain significance
rs75590517411:71,725,758C/G—uncertain significance
rs6175600811:71,725,797G/A—likely benign
rs249582104411:71,725,908G/T—uncertain significance

Showing 100 of 166 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.