AGRN

agrin

Summary

This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

Known Variants1,928 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs189343112	1:955,170	G/A	—	benign
rs78276138	1:955,213	T/C	—	benign
rs776698665	1:955,557	C/A	—	uncertain significance
rs1337682906	1:955,562	C/T	—	uncertain significance
rs539283387	1:955,563	G/C	—	benign
rs1389840850	1:955,572	C/T	—	uncertain significance
rs1243840367	1:955,573	G/T	—	likely benign
rs2523159367	1:955,575	G/C	—	uncertain significance
rs1317316964	1:955,576	C/T	—	likely benign
rs1360432726	1:955,579	G/A	—	likely benign
rs1226970553	1:955,580	C/A	—	uncertain significance
rs1281912578	1:955,584	G/T	—	uncertain significance
rs1224545239	1:955,586	C/T	—	uncertain significance
rs1181200410	1:955,588	G/C	—	likely benign
rs2100555271	1:955,589	C/G	—	uncertain significance
rs764659938	1:955,596	C/G	—	uncertain significance
rs115173026	1:955,597	G/T	—	benign
rs1644364474	1:955,600	C/T	—	likely benign
rs1057523287	1:955,601	C/T	—	uncertain significance
rs901063398	1:955,606	G/C	—	likely benign
rs1383634825	1:955,613	G/T	—	uncertain significance
rs1293740544	1:955,615	G/C	—	likely benign
rs2100555461	1:955,617	G/A	—	uncertain significance
rs201073369	1:955,619	G/C	—	conflicting classifications of pathogenicity
rs1262975758	1:955,620	T/G	—	uncertain significance
rs751987155	1:955,627	C/G	—	likely benign
rs1185534330	1:955,628	G/A	—	uncertain significance
rs2523159953	1:955,629	G/A	—	uncertain significance
rs1347965657	1:955,633	C/G	—	likely benign
rs1224863987	1:955,638	G/A	—	uncertain significance
rs1644366175	1:955,642	A/G	—	likely benign
rs2100555629	1:955,644	G/T	—	uncertain significance
rs1557679927	1:955,645	C/T	—	likely benign
rs1570124541	1:955,646	C/T	—	uncertain significance
rs1194105483	1:955,647	C/T	—	uncertain significance
rs1000275884	1:955,649	G/A	—	uncertain significance
rs1033464887	1:955,654	C/T	—	likely benign
rs2523160347	1:955,666	G/T	—	likely benign
rs1453110514	1:955,672	G/A	—	likely benign
rs757604648	1:955,677	A/C	—	likely benign
rs1282970149	1:955,696	C/T	—	likely benign
rs767809484	1:955,701	C/T	—	uncertain significance
rs2100555876	1:955,711	G/A	—	likely benign
rs1644367802	1:955,717	C/T	—	likely benign
rs1316890507	1:955,719	A/G	—	uncertain significance
rs750933418	1:955,724	G/A	—	uncertain significance
rs1486603500	1:955,728	C/T	—	uncertain significance
rs951245406	1:955,735	G/C	—	conflicting classifications of pathogenicity
rs1570124875	1:955,741	G/C	—	likely benign
rs1313469026	1:955,757	C/A	—	uncertain significance
rs1570124899	1:955,763	C/T	—	likely benign
rs2100556027	1:955,770	C/T	—	likely benign
rs1260047546	1:955,771	C/G	—	likely benign
rs780017933	1:955,772	C/T	—	likely benign
rs555803746	1:955,891	G/T	—	likely benign
rs116468960	1:957,255	C/T	—	likely benign
rs1036873472	1:957,564	C/T	—	likely benign
rs115704555	1:957,568	A/G	—	benign
rs762519724	1:957,575	C/T	—	likely benign
rs750748055	1:957,604	G/A	—	likely benign
rs756623659	1:957,605	G/A	missense variant	pathogenic
rs1446604818	1:957,610	A/G	—	likely benign
rs1570131308	1:957,611	G/A	—	uncertain significance
rs2523175385	1:957,617	G/C	—	uncertain significance
rs1395381200	1:957,622	C/A	—	likely benign
rs368144442	1:957,624	G/A	—	uncertain significance
rs1408540234	1:957,625	G/A	—	likely benign
rs6657048	1:957,640	C/T	—	benign
rs769659786	1:957,643	C/T	—	likely benign
rs2523175630	1:957,645	G/T	—	uncertain significance
rs1260100487	1:957,648	A/G	—	uncertain significance
rs185077738	1:957,664	C/T	—	likely benign
rs369704878	1:957,667	C/G	—	likely benign
rs771686237	1:957,676	C/T	—	likely benign
rs773486550	1:957,677	C/T	—	uncertain significance
rs879253787	1:957,693	A/T	missense variant	not provided
rs1644424133	1:957,697	G/A	—	likely benign
rs569638601	1:957,715	C/T	—	likely benign
rs1325478476	1:957,718	G/A	—	likely benign
rs2100563474	1:957,729	T/C	—	uncertain significance
rs760057776	1:957,735	C/T	—	uncertain significance
rs765443053	1:957,737	G/C	—	uncertain significance
rs1644424943	1:957,738	C/T	—	uncertain significance
rs533320704	1:957,741	C/A	—	uncertain significance
rs1445429136	1:957,743	C/G	—	uncertain significance
rs1644425409	1:957,750	T/C	—	uncertain significance
rs755949709	1:957,759	C/T	—	uncertain significance
rs138808237	1:957,762	A/G	—	uncertain significance
rs768527925	1:957,763	C/G	—	conflicting classifications of pathogenicity
rs746643534	1:957,770	G/A	—	uncertain significance
rs2523176765	1:957,782	A/G	—	uncertain significance
rs1644426137	1:957,784	C/T	—	likely benign
rs376542441	1:957,789	G/T	—	uncertain significance
rs760191021	1:957,798	G/A	—	uncertain significance
rs1404084407	1:957,800	A/C	—	uncertain significance
rs2100563748	1:957,801	T/C	—	uncertain significance
rs771335673	1:957,805	C/T	—	likely benign
rs760143672	1:957,810	G/A	—	uncertain significance
rs752866873	1:957,814	C/A	—	uncertain significance
rs763121838	1:957,820	G/A	—	likely benign

Showing 100 of 1,928 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.