ASPM

assembly factor for spindle microtubules

Summary

This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]

Known Variants1,444 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs75841031	1:197,053,120	C/T	—	likely benign
rs1332660	1:197,053,141	T/C	—	benign
rs41265225	1:197,053,296	A/G	—	conflicting classifications of pathogenicity
rs537891059	1:197,053,309	A/C	—	uncertain significance
rs775183015	1:197,053,372	C/T	—	uncertain significance
rs12677	1:197,053,373	G/A	—	benign
rs3790415	1:197,053,376	G/C	—	uncertain significance
rs111463579	1:197,053,393	C/T	—	uncertain significance
rs1537318	1:197,053,394	G/A	—	likely benign
rs150108952	1:197,053,472	C/T	—	conflicting classifications of pathogenicity
rs1331602460	1:197,053,473	G/A	—	uncertain significance
rs2125085174	1:197,053,514	T/C	—	likely benign
rs759913912	1:197,053,524	T/A	—	uncertain significance
rs1375813973	1:197,053,542	C/A	—	uncertain significance
rs2527244930	1:197,053,553	A/C	—	likely benign
rs1558319794	1:197,053,569	A/G	—	likely benign
rs12122415	1:197,054,607	T/C	intron variant	—
rs10733087	1:197,055,782	T/C	—	benign
rs571179573	1:197,055,915	C/T	—	likely benign
rs10754213	1:197,055,925	T/C	—	benign
rs368843607	1:197,055,928	C/T	—	conflicting classifications of pathogenicity
rs140231146	1:197,055,934	T/G	—	uncertain significance
rs2527250520	1:197,055,954	A/T	—	uncertain significance
rs1656603502	1:197,055,968	G/A	—	likely benign
rs794727443	1:197,055,969	A/T	—	uncertain significance
rs137887134	1:197,055,976	G/A	—	uncertain significance
rs370856504	1:197,055,980	G/C	—	uncertain significance
rs886045758	1:197,055,985	T/C	—	uncertain significance
rs201191528	1:197,056,003	G/T	—	conflicting classifications of pathogenicity
rs1383055393	1:197,056,005	T/C	—	uncertain significance
rs761768584	1:197,056,042	G/A	—	uncertain significance
rs1194792753	1:197,056,047	G/C	—	uncertain significance
rs376905328	1:197,056,072	G/A	—	uncertain significance
rs587783211	1:197,056,096	G/A	stop gained	pathogenic
rs370380433	1:197,056,099	C/T	—	uncertain significance
rs141402675	1:197,056,109	A/T	—	likely benign
rs149864217	1:197,056,175	C/A	—	likely benign
rs75268113	1:197,057,242	T/A	—	benign
rs1388514465	1:197,057,391	C/G	—	uncertain significance
rs375363647	1:197,057,399	G/A	—	uncertain significance
rs1469948491	1:197,057,400	T/C	—	uncertain significance
rs2527254930	1:197,057,402	G/A	—	uncertain significance
rs756975140	1:197,057,421	A/G	—	likely benign
rs1656663616	1:197,057,429	C/T	—	uncertain significance
rs767471866	1:197,057,434	T/G	—	likely benign
rs587783209	1:197,057,438	G/C	—	uncertain significance
rs587783208	1:197,057,447	C/T	—	uncertain significance
rs201679731	1:197,057,451	C/T	—	conflicting classifications of pathogenicity
rs886045759	1:197,057,452	G/A	—	conflicting classifications of pathogenicity
rs537930821	1:197,057,486	C/T	—	uncertain significance
rs748529285	1:197,057,487	G/A	stop gained	pathogenic
rs199422201	1:197,057,488	G/T	stop gained	not provided
rs141240137	1:197,057,490	A/G	—	uncertain significance
rs191340810	1:197,057,506	C/T	—	likely benign
rs886045760	1:197,057,508	A/G	—	uncertain significance
rs1193488480	1:197,057,513	A/T	—	uncertain significance
rs1390576128	1:197,057,534	T/A	—	uncertain significance
rs951343801	1:197,057,541	C/T	—	uncertain significance
rs2527255713	1:197,057,542	T/G	—	likely benign
rs139927527	1:197,057,551	A/G	—	likely benign
rs1571587031	1:197,057,571	G/C	—	likely benign
rs538986451	1:197,057,634	C/T	—	uncertain significance
rs199422200	1:197,059,059	C/A	—	not provided
rs1482100822	1:197,059,083	G/A	—	pathogenic
rs2527259497	1:197,059,086	C/T	—	uncertain significance
rs2527259503	1:197,059,090	A/G	—	likely benign
rs1427418520	1:197,059,105	C/A	—	uncertain significance
rs886045761	1:197,059,112	G/A	—	uncertain significance
rs542967760	1:197,059,113	G/C	—	uncertain significance
rs147256280	1:197,059,116	T/C	—	uncertain significance
rs201362977	1:197,059,121	C/A	missense variant	pathogenic
rs149859034	1:197,059,133	C/T	—	conflicting classifications of pathogenicity
rs587783295	1:197,059,134	G/A	stop gained	pathogenic
rs753771321	1:197,059,146	A/G	—	uncertain significance
rs201033114	1:197,059,154	G/T	—	conflicting classifications of pathogenicity
rs2125087894	1:197,059,170	G/A	—	pathogenic
rs199422199	1:197,059,203	T/A	stop gained	pathogenic
rs201072395	1:197,059,210	T/C	—	likely benign
rs141348662	1:197,059,211	A/G	—	conflicting classifications of pathogenicity
rs532630414	1:197,059,212	C/T	—	uncertain significance
rs1236570791	1:197,059,221	G/A	—	likely benign
rs369987810	1:197,059,230	A/C	—	likely benign
rs1266580670	1:197,059,231	A/C	—	likely benign
rs200800781	1:197,059,232	C/A	—	benign
rs946626093	1:197,059,316	A/G	—	likely benign
rs1443343127	1:197,059,330	G/T	—	uncertain significance
rs2125088005	1:197,059,331	T/G	—	uncertain significance
rs2125088008	1:197,059,336	T/G	—	uncertain significance
rs977015237	1:197,059,341	C/T	—	uncertain significance
rs1435153594	1:197,059,348	A/G	—	likely benign
rs199422198	1:197,059,366	A/T	stop gained	pathogenic
rs7528827	1:197,059,382	T/C	—	likely benign
rs150809058	1:197,059,392	G/A	—	conflicting classifications of pathogenicity
rs1169355540	1:197,059,395	C/T	—	uncertain significance
rs199422195	1:197,059,425	G/A	stop gained	pathogenic
rs587783294	1:197,059,429	C/T	—	likely benign
rs199422194	1:197,059,458	G/A	stop gained	pathogenic
rs754294536	1:197,059,460	A/G	—	uncertain significance
rs1553326052	1:197,059,473	T/C	—	uncertain significance
rs755728788	1:197,059,476	T/G	—	uncertain significance

Showing 100 of 1,444 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.