NDE1

nudE neurodevelopment protein 1

Summary

This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

Known Variants174 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1340834896	16:15,737,125	G/A	—	uncertain significance
rs886051710	16:15,737,138	C/T	—	uncertain significance
rs867184365	16:15,737,156	C/T	—	uncertain significance
rs376603273	16:15,737,177	G/A	—	likely benign
rs374184031	16:15,737,185	C/T	—	uncertain significance
rs551758626	16:15,737,255	C/T	—	uncertain significance
rs373275027	16:15,737,263	C/T	—	likely benign
rs34560499	16:15,737,275	G/A	—	benign
rs79063947	16:15,737,386	C/T	—	benign
rs77774475	16:15,737,405	A/G	—	benign
rs187630586	16:15,737,415	C/A	—	likely benign
rs886051714	16:15,737,438	T/G	—	uncertain significance
rs886051715	16:15,737,471	C/T	—	uncertain significance
rs886051716	16:15,737,552	A/C	—	uncertain significance
rs138559781	16:15,737,597	A/G	—	likely benign
rs752993685	16:15,737,610	T/A	—	uncertain significance
rs117057165	16:15,737,648	A/G	—	likely benign
rs2036218596	16:15,737,704	A/C	—	uncertain significance
rs77151061	16:15,737,718	A/G	—	benign
rs886051718	16:15,737,764	G/T	—	uncertain significance
rs114855401	16:15,743,206	C/T	—	benign
rs142755362	16:15,743,218	C/T	—	benign
rs886051720	16:15,743,238	C/T	—	uncertain significance
rs11646913	16:15,743,276	T/C	—	benign
rs71376083	16:15,758,313	A/G	—	benign
rs746826311	16:15,758,591	A/G	—	uncertain significance
rs886051721	16:15,758,601	C/T	—	uncertain significance
rs794727491	16:15,758,636	A/G	—	conflicting classifications of pathogenicity
rs572790932	16:15,758,647	C/T	—	conflicting classifications of pathogenicity
rs536800933	16:15,758,648	G/A	—	uncertain significance
rs2151436089	16:15,758,659	C/A	—	uncertain significance
rs749487383	16:15,758,661	G/C	—	uncertain significance
rs886051722	16:15,758,670	A/G	—	uncertain significance
rs2151436194	16:15,758,689	G/A	—	pathogenic
rs143820142	16:15,758,701	G/A	—	likely benign
rs1456594953	16:15,758,719	G/T	—	pathogenic
rs184121872	16:15,758,726	C/T	—	likely benign
rs751186165	16:15,758,727	G/A	—	likely benign
rs7184854	16:15,758,906	T/C	—	benign
rs147492797	16:15,760,998	G/A	—	likely benign
rs587783872	16:15,761,138	T/C	—	uncertain significance
rs147283674	16:15,761,154	C/T	—	conflicting classifications of pathogenicity
rs377636369	16:15,761,155	G/A	—	likely benign
rs140813713	16:15,761,160	A/G	—	uncertain significance
rs757604577	16:15,761,168	C/T	—	pathogenic
rs750625960	16:15,761,169	G/A	—	uncertain significance
rs797045732	16:15,761,176	C/T	—	uncertain significance
rs747020521	16:15,761,189	C/T	—	uncertain significance
rs142618704	16:15,761,206	A/G	—	likely benign
rs148118152	16:15,761,214	C/T	—	uncertain significance
rs1274498488	16:15,761,241	A/G	—	uncertain significance
rs1000629971	16:15,761,243	A/G	—	uncertain significance
rs777008106	16:15,761,273	C/T	—	uncertain significance
rs139632459	16:15,761,274	G/A	—	uncertain significance
rs76343140	16:15,761,399	C/G	—	benign
rs4781679	16:15,761,433	C/G	—	benign
rs7191817	16:15,761,489	G/T	—	benign
rs796598460	16:15,761,491	T/G	—	benign
rs6498567	16:15,771,601	T/C	—	benign
rs143392605	16:15,771,619	G/A	—	likely benign
rs768247069	16:15,771,638	G/C	—	likely benign
rs372365525	16:15,771,692	G/A	—	uncertain significance
rs760012847	16:15,771,711	G/A	—	conflicting classifications of pathogenicity
rs189787660	16:15,771,720	C/T	—	likely benign
rs201587506	16:15,771,722	C/T	—	uncertain significance
rs376548563	16:15,771,729	C/G	—	conflicting classifications of pathogenicity
rs769156326	16:15,771,745	C/G	—	uncertain significance
rs2037969890	16:15,771,768	G/A	—	likely benign
rs775566610	16:15,771,786	C/T	—	likely benign
rs761910819	16:15,771,806	G/A	—	uncertain significance
rs147174812	16:15,771,815	G/A	—	conflicting classifications of pathogenicity
rs62036933	16:15,771,847	C/G	—	benign
rs78975640	16:15,771,951	G/A	—	benign
rs8044738	16:15,781,054	A/G	—	benign
rs55734390	16:15,781,092	T/G	—	benign
rs116689239	16:15,781,172	C/T	—	likely benign
rs114010924	16:15,781,192	G/C	—	likely benign
rs553413896	16:15,781,227	G/A	—	uncertain significance
rs373842185	16:15,781,232	C/T	—	conflicting classifications of pathogenicity
rs146749256	16:15,781,233	G/A	—	uncertain significance
rs776712861	16:15,781,251	G/A	—	uncertain significance
rs769769294	16:15,781,281	A/T	—	uncertain significance
rs140251634	16:15,781,331	C/T	—	likely benign
rs794727785	16:15,781,358	T/C	—	conflicting classifications of pathogenicity
rs13335900	16:15,784,903	G/A	—	benign
rs114622559	16:15,784,956	C/T	—	likely benign
rs377663978	16:15,784,991	T/A	—	likely benign
rs770035211	16:15,784,995	G/A	—	uncertain significance
rs1232186532	16:15,785,007	G/A	—	uncertain significance
rs553258134	16:15,785,032	G/A	—	likely benign
rs2038731014	16:15,785,045	A/G	—	uncertain significance
rs113493697	16:15,785,049	T/C	—	likely benign
rs146469808	16:15,785,054	A/G	—	uncertain significance
rs2509898757	16:15,785,064	C/T	—	uncertain significance
rs587783867	16:15,785,100	C/T	missense variant	uncertain significance
rs149046258	16:15,785,101	C/T	—	conflicting classifications of pathogenicity
rs746455584	16:15,785,103	C/T	—	uncertain significance
rs768268553	16:15,785,104	G/C	—	likely benign
rs776998834	16:15,785,107	C/T	—	likely benign
rs886051724	16:15,785,109	C/T	—	uncertain significance

Showing 100 of 174 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.