NHLRC1

NHL repeat containing E3 ubiquitin protein ligase 1

Summary

The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]

Known Variants293 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs75407001	6:18,120,293	C/G	—	—
rs146342540	6:18,120,764	C/T	—	benign
rs72839174	6:18,120,775	A/T	—	uncertain significance
rs536257194	6:18,120,813	C/T	—	uncertain significance
rs886061250	6:18,120,853	T/C	—	uncertain significance
rs141863990	6:18,120,930	A/G	—	likely benign
rs150615281	6:18,120,988	G/C	—	uncertain significance
rs10949480	6:18,121,024	G/A	—	benign
rs10949481	6:18,121,029	A/T	—	benign
rs935643502	6:18,121,113	A/G	—	uncertain significance
rs114713758	6:18,121,168	G/C	—	benign
rs555214908	6:18,121,208	C/G	—	uncertain significance
rs886061251	6:18,121,244	T/C	—	uncertain significance
rs147528518	6:18,121,306	T/A	—	likely benign
rs10949482	6:18,121,314	C/T	—	benign
rs140122442	6:18,121,318	C/A	—	uncertain significance
rs375143655	6:18,121,323	C/G	—	uncertain significance
rs369668171	6:18,121,324	G/A	—	uncertain significance
rs79197160	6:18,121,330	C/T	—	likely benign
rs11966748	6:18,121,374	C/G	—	likely benign
rs182779486	6:18,121,402	G/C	—	uncertain significance
rs73379118	6:18,121,413	A/G	—	likely benign
rs1370146880	6:18,121,440	A/G	—	uncertain significance
rs1783727115	6:18,121,475	A/G	—	uncertain significance
rs895212001	6:18,121,497	T/A	—	uncertain significance
rs73379121	6:18,121,565	A/T	—	likely benign
rs886061252	6:18,121,589	G/T	—	uncertain significance
rs11966789	6:18,121,595	C/G	—	benign
rs377500729	6:18,121,612	C/A	—	uncertain significance
rs760726977	6:18,121,653	C/T	—	likely benign
rs753959228	6:18,121,655	C/T	—	uncertain significance
rs1554136384	6:18,121,663	A/T	—	uncertain significance
rs765576968	6:18,121,664	C/T	—	uncertain significance
rs562100142	6:18,121,672	A/T	—	uncertain significance
rs541460675	6:18,121,673	C/A	—	uncertain significance
rs200201752	6:18,121,696	T/C	missense variant	uncertain significance
rs1179677260	6:18,121,701	C/A	—	likely benign
rs778364234	6:18,121,706	G/C	—	uncertain significance
rs865887763	6:18,121,711	G/T	—	uncertain significance
rs771702699	6:18,121,718	C/A	—	pathogenic
rs1422730903	6:18,121,729	G/T	—	uncertain significance
rs760322295	6:18,121,746	C/T	—	likely benign
rs78324544	6:18,121,747	G/T	—	pathogenic
rs370044232	6:18,121,748	A/T	—	uncertain significance
rs1275828844	6:18,121,751	G/C	—	uncertain significance
rs372993582	6:18,121,762	A/T	—	uncertain significance
rs765443391	6:18,121,766	T/C	—	uncertain significance
rs752799460	6:18,121,773	C/T	—	likely benign
rs144863228	6:18,121,774	G/A	—	uncertain significance
rs1783733228	6:18,121,775	G/A	—	uncertain significance
rs1440601226	6:18,121,780	G/A	—	uncertain significance
rs377395116	6:18,121,785	C/G	—	uncertain significance
rs1783733675	6:18,121,799	C/T	—	uncertain significance
rs2150702721	6:18,121,802	A/G	—	likely benign
rs781739043	6:18,121,804	C/T	—	uncertain significance
rs750935925	6:18,121,811	T/C	—	uncertain significance
rs756591398	6:18,121,812	A/G	—	likely benign
rs747655441	6:18,121,821	A/G	—	likely benign
rs1388505858	6:18,121,825	G/A	—	uncertain significance
rs2533895574	6:18,121,830	T/C	—	uncertain significance
rs148553723	6:18,121,848	C/T	—	conflicting classifications of pathogenicity
rs746839446	6:18,121,858	A/C	—	uncertain significance
rs770587249	6:18,121,861	G/T	—	conflicting classifications of pathogenicity
rs587780400	6:18,121,865	C/T	—	uncertain significance
rs776454075	6:18,121,868	C/T	—	uncertain significance
rs142941035	6:18,121,869	G/A	—	conflicting classifications of pathogenicity
rs762064606	6:18,121,895	A/T	—	uncertain significance
rs2150702790	6:18,121,903	A/G	—	uncertain significance
rs527299943	6:18,121,905	C/A	—	likely benign
rs2533895754	6:18,121,908	A/G	—	uncertain significance
rs137852859	6:18,121,915	T/G	missense variant	pathogenic
rs752220824	6:18,121,925	C/T	—	uncertain significance
rs777509826	6:18,121,942	G/A	—	uncertain significance
rs1783736655	6:18,121,945	C/A	—	uncertain significance
rs1314207581	6:18,121,956	C/A	—	likely benign
rs756909945	6:18,121,958	C/T	—	uncertain significance
rs200214191	6:18,121,964	T/A	—	uncertain significance
rs375475285	6:18,121,983	C/G	—	likely benign
rs2150702844	6:18,121,993	G/A	—	uncertain significance
rs762001530	6:18,121,995	G/A	—	likely benign
rs140066702	6:18,122,001	C/T	—	likely benign
rs556216487	6:18,122,007	C/G	—	likely benign
rs1783738374	6:18,122,008	G/A	—	uncertain significance
rs2533896116	6:18,122,011	A/G	—	uncertain significance
rs1281512045	6:18,122,017	C/A	—	uncertain significance
rs568213488	6:18,122,018	C/T	—	uncertain significance
rs1220104886	6:18,122,019	G/A	—	likely benign
rs2150702863	6:18,122,029	G/T	—	uncertain significance
rs755474952	6:18,122,030	A/C	—	uncertain significance
rs1315297224	6:18,122,031	C/T	—	likely benign
rs140164729	6:18,122,033	C/T	—	uncertain significance
rs1783739245	6:18,122,041	C/T	—	uncertain significance
rs553814041	6:18,122,044	C/T	—	uncertain significance
rs121917875	6:18,122,045	G/A	stop gained	pathogenic
rs796052756	6:18,122,047	G/C	—	uncertain significance
rs749287999	6:18,122,051	T/G	—	uncertain significance
rs879745047	6:18,122,056	A/G	—	conflicting classifications of pathogenicity
rs144043056	6:18,122,059	T/C	—	uncertain significance
rs1783740022	6:18,122,063	C/A	—	uncertain significance
rs377025668	6:18,122,065	T/C	—	uncertain significance

Showing 100 of 293 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.