NOTCH3

notch receptor 3

Summary

This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]

Known Variants1,328 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs16980378	19:15,270,536	A/G	—	likely benign
rs1044123	19:15,270,583	G/A	—	benign
rs571584841	19:15,270,628	C/A	—	benign
rs12082	19:15,270,636	T/C	—	benign
rs1044116	19:15,270,665	C/T	—	benign
rs3087938	19:15,270,756	G/C	—	uncertain significance
rs1044055	19:15,270,805	C/A	—	benign
rs754043656	19:15,270,817	A/G	—	uncertain significance
rs577953923	19:15,270,865	G/A	—	uncertain significance
rs77669983	19:15,270,910	G/A	—	likely benign
rs368577217	19:15,270,929	G/A	—	benign
rs532350128	19:15,270,956	G/A	—	uncertain significance
rs145095999	19:15,271,010	C/T	—	benign
rs886054250	19:15,271,091	A/C	—	uncertain significance
rs139792065	19:15,271,103	T/C	—	benign
rs7247906	19:15,271,135	T/G	—	benign
rs181930934	19:15,271,167	G/A	—	uncertain significance
rs2046630018	19:15,271,194	G/A	—	uncertain significance
rs117165744	19:15,271,377	A/G	—	likely benign
rs185310376	19:15,271,388	C/A	—	benign
rs73504084	19:15,271,450	A/T	—	likely benign
rs182111655	19:15,271,469	C/T	—	benign
rs202157455	19:15,271,470	G/A	—	conflicting classifications of pathogenicity
rs771682246	19:15,271,507	G/A	—	likely benign
rs2512608166	19:15,271,511	G/A	—	uncertain significance
rs548018044	19:15,271,513	G/C	—	conflicting classifications of pathogenicity
rs753654158	19:15,271,515	C/T	—	uncertain significance
rs2046632682	19:15,271,526	T/C	—	uncertain significance
rs563135804	19:15,271,534	T/C	—	uncertain significance
rs1166587862	19:15,271,535	G/A	—	uncertain significance
rs758304248	19:15,271,545	G/A	—	likely benign
rs757223979	19:15,271,566	T/G	—	likely benign
rs1177268940	19:15,271,589	T/A	—	conflicting classifications of pathogenicity
rs776195742	19:15,271,591	G/A	—	likely benign
rs570409038	19:15,271,601	T/C	—	likely benign
rs769277680	19:15,271,606	C/T	—	uncertain significance
rs61731974	19:15,271,626	A/G	—	benign
rs148716935	19:15,271,630	G/A	—	likely benign
rs996150018	19:15,271,637	C/T	—	conflicting classifications of pathogenicity
rs750484931	19:15,271,638	G/A	—	likely benign
rs566389753	19:15,271,647	T/G	—	likely benign
rs1378552176	19:15,271,653	G/A	—	likely benign
rs775043966	19:15,271,665	G/A	—	likely benign
rs779247987	19:15,271,669	C/T	—	uncertain significance
rs1467189262	19:15,271,672	G/C	—	uncertain significance
rs748516303	19:15,271,673	C/A	—	uncertain significance
rs201073642	19:15,271,684	G/A	—	uncertain significance
rs61731975	19:15,271,686	G/A	—	benign
rs769454994	19:15,271,692	G/A	—	likely benign
rs869312910	19:15,271,707	G/T	stop gained	pathogenic
rs2046634646	19:15,271,712	G/A	—	uncertain significance
rs2145380269	19:15,271,713	G/A	—	uncertain significance
rs537601286	19:15,271,729	C/A	—	uncertain significance
rs749189648	19:15,271,730	G/C	—	uncertain significance
rs750631177	19:15,271,738	C/T	—	conflicting classifications of pathogenicity
rs184996545	19:15,271,739	G/A	—	likely benign
rs753983081	19:15,271,745	T/C	—	uncertain significance
rs755461072	19:15,271,755	G/A	—	likely benign
rs1366113655	19:15,271,758	G/C	—	uncertain significance
rs779441679	19:15,271,760	G/A	—	uncertain significance
rs191173559	19:15,271,770	C/A	—	likely benign
rs1044009	19:15,271,771	G/A	missense variant	benign
rs769365145	19:15,271,773	C/T	—	benign
rs1489373939	19:15,271,774	G/A	—	uncertain significance
rs869312911	19:15,271,776	G/C	stop gained	pathogenic
rs559474673	19:15,271,784	C/T	—	uncertain significance
rs528209250	19:15,271,785	G/A	—	likely benign
rs774187286	19:15,271,796	G/T	—	uncertain significance
rs935487877	19:15,271,806	G/C	stop gained	pathogenic
rs369813654	19:15,271,807	T/C	—	conflicting classifications of pathogenicity
rs760880486	19:15,271,812	C/T	—	likely benign
rs541716070	19:15,271,813	G/A	—	likely benign
rs765739997	19:15,271,819	C/T	—	conflicting classifications of pathogenicity
rs753170185	19:15,271,820	G/A	—	conflicting classifications of pathogenicity
rs752030208	19:15,271,827	C/T	—	likely benign
rs371738874	19:15,271,828	G/A	—	conflicting classifications of pathogenicity
rs200415679	19:15,271,836	G/A	—	conflicting classifications of pathogenicity
rs2145380744	19:15,271,840	G/C	—	uncertain significance
rs778851827	19:15,271,842	C/T	—	likely benign
rs2046636997	19:15,271,861	G/T	—	uncertain significance
rs2046637071	19:15,271,865	C/G	—	uncertain significance
rs576653145	19:15,271,866	C/T	—	likely benign
rs1221203164	19:15,271,867	G/T	—	uncertain significance
rs771107661	19:15,271,869	C/T	—	likely benign
rs528151296	19:15,271,870	G/A	—	conflicting classifications of pathogenicity
rs969052177	19:15,271,880	G/C	—	uncertain significance
rs1269752929	19:15,271,888	G/A	—	uncertain significance
rs765248853	19:15,271,893	G/T	—	likely benign
rs2512609268	19:15,271,901	G/T	—	uncertain significance
rs763368057	19:15,271,903	G/A	—	uncertain significance
rs751951476	19:15,271,907	G/A	—	conflicting classifications of pathogenicity
rs1280248640	19:15,271,917	C/G	—	likely benign
rs1337328035	19:15,271,918	C/T	—	uncertain significance
rs754442174	19:15,271,929	G/A	—	likely benign
rs886054252	19:15,271,933	G/C	—	uncertain significance
rs2145381161	19:15,271,934	G/A	—	uncertain significance
rs546608637	19:15,271,935	C/G	—	likely benign
rs1244961873	19:15,271,976	C/G	—	uncertain significance
rs2145381350	19:15,271,985	G/C	—	uncertain significance
rs758243307	19:15,271,990	C/T	—	likely benign

Showing 100 of 1,328 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.