JAGN1

jagunal vesicle mediated transporter 1

Summary

The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]

Known Variants119 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs62247528	3:9,931,973	C/T	—	benign
rs279559	3:9,932,112	T/C	—	benign
rs111475950	3:9,932,147	C/T	—	benign
rs279558	3:9,932,337	C/G	—	benign
rs143438463	3:9,932,407	A/G	—	likely benign
rs587777727	3:9,932,409	G/A	missense variant	pathogenic
rs569985954	3:9,932,417	G/C	—	uncertain significance
rs377365266	3:9,932,418	A/G	—	likely benign
rs138937423	3:9,932,427	G/C	—	benign
rs764805098	3:9,932,433	G/A	—	likely benign
rs549030325	3:9,932,436	C/T	—	likely benign
rs150797085	3:9,932,441	C/T	—	uncertain significance
rs779826747	3:9,932,442	C/G	—	likely benign
rs2125060281	3:9,932,443	G/A	—	uncertain significance
rs751452713	3:9,932,445	C/T	—	likely benign
rs786205704	3:9,932,446	G/A	missense variant	pathogenic
rs1575466167	3:9,932,447	G/A	—	uncertain significance
rs943577194	3:9,932,449	A/G	—	uncertain significance
rs1177521463	3:9,932,452	G/T	—	uncertain significance
rs2082556888	3:9,932,457	T/G	—	uncertain significance
rs200485958	3:9,932,458	C/A	—	conflicting classifications of pathogenicity
rs748123071	3:9,932,462	A/G	—	conflicting classifications of pathogenicity
rs2082556963	3:9,932,463	C/T	—	likely benign
rs777966677	3:9,932,465	G/A	missense variant	pathogenic
rs587777729	3:9,932,469	G/T	missense variant	pathogenic
rs146967886	3:9,932,470	C/T	—	uncertain significance
rs377495463	3:9,932,477	C/T	—	uncertain significance
rs945392170	3:9,932,480	T/C	—	uncertain significance
rs1559259122	3:9,932,483	A/T	—	uncertain significance
rs759703042	3:9,932,484	C/T	—	likely benign
rs1457546133	3:9,932,495	G/A	—	uncertain significance
rs2469941957	3:9,932,496	G/A	—	uncertain significance
rs571856698	3:9,932,499	T/C	—	uncertain significance
rs1165507991	3:9,932,510	G/T	—	likely benign
rs2279795	3:9,934,428	T/C	—	benign
rs187981807	3:9,934,579	C/T	—	likely benign
rs201733831	3:9,934,580	C/T	—	benign
rs371744656	3:9,934,581	C/G	—	likely benign
rs180988466	3:9,934,583	C/T	—	likely benign
rs2082572230	3:9,934,586	C/G	—	likely benign
rs762370289	3:9,934,590	G/C	—	likely benign
rs201225696	3:9,934,599	T/C	—	likely benign
rs279553	3:9,934,605	T/C	—	benign
rs201260563	3:9,934,611	G/A	—	likely benign
rs1215307853	3:9,934,620	C/G	—	uncertain significance
rs763900045	3:9,934,626	G/A	—	likely benign
rs2082572609	3:9,934,629	G/A	—	likely benign
rs140024249	3:9,934,632	C/A	—	likely benign
rs753747801	3:9,934,633	T/C	—	uncertain significance
rs140564109	3:9,934,635	C/T	—	likely benign
rs778975542	3:9,934,636	G/A	—	uncertain significance
rs587777728	3:9,934,639	C/T	missense variant	pathogenic
rs528473640	3:9,934,647	C/T	—	likely benign
rs2469944208	3:9,934,651	T/C	—	uncertain significance
rs2125061097	3:9,934,654	C/G	—	uncertain significance
rs201196372	3:9,934,668	T/C	—	likely benign
rs1311043090	3:9,934,672	A/T	—	uncertain significance
rs1265469155	3:9,934,677	C/T	—	likely benign
rs919986813	3:9,934,681	G/A	—	uncertain significance
rs1297627583	3:9,934,688	T/C	—	uncertain significance
rs768937406	3:9,934,693	C/T	—	uncertain significance
rs776988033	3:9,934,695	C/G	—	likely benign
rs748678543	3:9,934,698	G/A	—	likely benign
rs2125061122	3:9,934,702	C/T	—	uncertain significance
rs2082573376	3:9,934,714	G/A	—	uncertain significance
rs759083520	3:9,934,716	C/T	—	likely benign
rs200023062	3:9,934,720	C/A	—	uncertain significance
rs2082573471	3:9,934,724	A/G	—	uncertain significance
rs35365817	3:9,934,753	G/A	—	likely benign
rs2082573703	3:9,934,759	C/G	—	uncertain significance
rs2082573718	3:9,934,760	C/G	—	uncertain significance
rs1433604133	3:9,934,769	T/C	—	uncertain significance
rs1575467572	3:9,934,773	C/T	—	likely benign
rs1216872340	3:9,934,777	C/T	—	uncertain significance
rs143617732	3:9,934,779	C/T	—	likely benign
rs1444280254	3:9,934,788	C/T	—	likely benign
rs866176976	3:9,934,789	C/G	—	uncertain significance
rs1470509164	3:9,934,804	T/A	—	uncertain significance
rs786205705	3:9,934,806	C/G	stop gained	pathogenic
rs2469944489	3:9,934,819	A/G	—	uncertain significance
rs749407510	3:9,934,822	A/G	—	uncertain significance
rs185449117	3:9,934,824	C/A	—	benign
rs2082574453	3:9,934,826	G/A	—	uncertain significance
rs776475085	3:9,934,828	A/G	—	uncertain significance
rs774976908	3:9,934,836	C/G	—	likely benign
rs2082574589	3:9,934,839	T/C	—	likely benign
rs762026143	3:9,934,843	A/G	—	uncertain significance
rs368122140	3:9,934,845	C/T	—	likely benign
rs563088178	3:9,934,848	T/C	—	likely benign
rs1467031121	3:9,934,855	A/G	—	uncertain significance
rs2469944544	3:9,934,863	C/T	—	likely benign
rs771407343	3:9,934,888	C/T	—	uncertain significance
rs779485881	3:9,934,898	A/G	—	uncertain significance
rs542419840	3:9,934,901	G/A	—	uncertain significance
rs1444848644	3:9,934,903	C/T	—	uncertain significance
rs61746084	3:9,934,912	G/A	—	likely benign
rs1559260160	3:9,934,918	C/T	—	uncertain significance
rs1461879862	3:9,934,928	T/G	—	uncertain significance
rs762857972	3:9,934,930	G/C	—	uncertain significance
rs766336706	3:9,934,941	C/T	—	likely benign

Showing 100 of 119 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.