EML1

EMAP like 1

Summary

Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants166 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11621662	14:100,213,461	C/A	regulatory region variant	—
rs10138664	14:100,215,595	G/A	regulatory region variant	—
rs7154495	14:100,257,203	C/T	—	—
rs35522344	14:100,283,856	C/T	intron variant	—
rs772128160	14:100,317,198	G/A	—	uncertain significance
rs2548789621	14:100,317,243	C/G	—	uncertain significance
rs2548789633	14:100,317,258	C/T	—	likely pathogenic
rs780402565	14:100,317,261	A/C	—	uncertain significance
rs34803725	14:100,317,272	C/T	—	benign
rs2058785975	14:100,317,273	G/A	—	uncertain significance
rs777004379	14:100,317,295	C/G	—	uncertain significance
rs190219526	14:100,317,317	G/A	—	likely benign
rs377629941	14:100,317,329	T/C	—	likely benign
rs371076149	14:100,317,344	C/T	—	likely benign
rs72708401	14:100,317,376	G/A	—	benign
rs182486651	14:100,317,378	C/T	—	likely benign
rs4905905	14:100,317,472	G/A	—	benign
rs12432209	14:100,331,655	G/A	—	benign
rs2548810401	14:100,331,843	T/C	—	likely benign
rs369479741	14:100,331,853	A/C	—	likely benign
rs11160553	14:100,331,876	T/C	—	benign
rs139087520	14:100,331,888	G/A	—	likely benign
rs193255816	14:100,331,893	A/G	—	uncertain significance
rs141631682	14:100,331,926	G/A	—	benign
rs759177439	14:100,331,940	C/G	—	uncertain significance
rs139395720	14:100,331,945	C/T	—	benign
rs199650308	14:100,331,956	A/G	—	uncertain significance
rs146994265	14:100,331,994	A/G	—	likely benign
rs1191121	14:100,341,430	A/G	—	benign
rs7152170	14:100,341,434	A/C	—	benign
rs74087914	14:100,344,650	C/T	—	benign
rs1191118	14:100,344,698	T/C	—	benign
rs375177816	14:100,344,813	C/T	—	likely benign
rs886037935	14:100,344,850	C/T	stop gained	pathogenic
rs2059332983	14:100,344,901	C/T	—	uncertain significance
rs779637372	14:100,344,908	G/A	—	uncertain significance
rs11846839	14:100,344,965	G/A	—	benign
rs117862534	14:100,344,970	A/G	—	benign
rs11846850	14:100,345,052	G/C	—	benign
rs2548849122	14:100,357,527	T/C	—	likely benign
rs1191100	14:100,357,643	C/T	—	benign
rs1191098	14:100,360,855	A/G	—	benign
rs749083976	14:100,360,993	G/A	—	uncertain significance
rs749951880	14:100,361,056	A/G	—	uncertain significance
rs7144394	14:100,361,072	C/G	—	benign
rs886037937	14:100,361,091	T/C	missense variant	pathogenic
rs771907467	14:100,361,110	T/C	—	likely benign
rs975252	14:100,361,305	C/T	—	benign
rs1998385	14:100,361,886	A/T	intron variant	—
rs13379198	14:100,363,254	A/C	—	benign
rs1191091	14:100,363,266	T/C	—	benign
rs17652784	14:100,363,336	C/T	—	benign
rs368509823	14:100,363,530	G/A	—	likely benign
rs886037936	14:100,363,531	A/G	missense variant	pathogenic
rs1258808713	14:100,363,560	C/T	—	likely benign
rs572848821	14:100,363,605	C/T	—	likely benign
rs544894253	14:100,363,617	C/T	—	likely benign
rs200809929	14:100,363,623	C/T	—	likely benign
rs2273707	14:100,363,671	G/C	—	benign
rs2273706	14:100,363,672	A/G	—	benign
rs3736815	14:100,364,403	T/C	—	benign
rs1378221823	14:100,364,560	C/A	—	likely benign
rs772428671	14:100,364,576	A/T	—	likely benign
rs373349724	14:100,364,597	G/A	—	likely benign
rs201676476	14:100,364,617	C/T	—	uncertain significance
rs377163239	14:100,364,620	G/A	—	uncertain significance
rs151228442	14:100,364,624	A/G	—	likely benign
rs369951654	14:100,364,627	G/A	—	likely benign
rs201162542	14:100,364,648	C/T	—	benign
rs2548863390	14:100,367,292	G/A	—	uncertain significance
rs2059753436	14:100,367,303	C/T	—	uncertain significance
rs761477897	14:100,367,305	T/C	—	likely benign
rs2548863413	14:100,367,309	A/G	—	uncertain significance
rs1259099008	14:100,367,319	C/T	—	likely benign
rs1595464267	14:100,373,965	T/G	—	likely benign
rs200131195	14:100,373,988	A/G	—	uncertain significance
rs2548871464	14:100,373,997	C/T	—	uncertain significance
rs2548871471	14:100,374,001	G/A	—	likely benign
rs141653535	14:100,374,013	C/T	—	benign
rs138056711	14:100,374,019	T/C	—	likely benign
rs74084639	14:100,374,183	G/A	—	benign
rs372044881	14:100,375,683	G/T	—	uncertain significance
rs34198557	14:100,375,707	C/T	—	benign
rs78864584	14:100,375,723	G/A	—	likely benign
rs200224154	14:100,375,794	A/G	—	uncertain significance
rs778766049	14:100,375,802	C/G	—	uncertain significance
rs1364758980	14:100,375,807	A/G	—	likely benign
rs10140426	14:100,376,502	C/T	—	benign
rs2059925917	14:100,376,658	A/G	—	uncertain significance
rs2145859	14:100,376,715	A/G	—	benign
rs12435250	14:100,377,548	G/A	—	benign
rs764944512	14:100,377,754	T/C	—	likely benign
rs373198786	14:100,377,768	G/A	—	uncertain significance
rs1297429703	14:100,377,817	T/C	—	likely benign
rs147023936	14:100,377,871	C/T	—	likely benign
rs775168648	14:100,377,875	T/A	—	uncertain significance
rs553247254	14:100,377,883	C/T	—	likely benign
rs2548878360	14:100,377,885	G/T	—	uncertain significance
rs753943424	14:100,377,909	C/T	—	uncertain significance
rs190394334	14:100,377,910	G/A	—	benign

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

Gene information from NCBI Gene. Variant classifications from ClinVar.