NHLRC1 Chromosome 6

NHL repeat containing E3 ubiquitin protein ligase 1
56 variants 56 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
6p22.3
Ensembl
ENSG00000187566
Associated Conditions (5)
Lafora disease
Inborn genetic diseases
NHLRC1-related disorder
Myoclonic epilepsy of Lafora 2
Myoclonic epilepsy of Lafora 1
Key Variants
RS138667242
Conflicting classifications of pathogenicity
Lafora disease, Lafora disease
Health Risk
RS139029314
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
Health Risk
RS140850172
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
Health Risk
RS142941035
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, Lafora disease
Health Risk
RS143537405
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
Health Risk
RS146636139
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
Health Risk
RS148553723
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
Health Risk
RS148907696
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, Lafora disease
Health Risk
RS1783731105
Conflicting classifications of pathogenicity
NHLRC1-related disorder, Lafora disease, NHLRC1-related disorder
Health Risk
RS200595273
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
Health Risk
RS2150703425
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, Lafora disease
Health Risk
RS370573413
Conflicting classifications of pathogenicity
Lafora disease, Lafora disease
Health Risk
All Variants (56)
RSID Category Clinical Significance Conditions
RS138667242 Health Risk Conflicting classifications of pathogenicity Lafora disease, Lafora disease
RS139029314 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
RS140850172 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
RS142941035 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases, Lafora disease
RS143537405 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
RS146636139 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
RS148553723 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
RS148907696 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases, Lafora disease
RS1783731105 Health Risk Conflicting classifications of pathogenicity NHLRC1-related disorder, Lafora disease, NHLRC1-related disorder
RS200595273 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
RS2150703425 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases, Lafora disease
RS370573413 Health Risk Conflicting classifications of pathogenicity Lafora disease, Lafora disease
RS539307365 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases, Lafora disease
RS770587249 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases, Lafora disease
RS879745047 Health Risk Conflicting classifications of pathogenicity Lafora disease, Lafora disease
RS1194084403 Health Risk Likely pathogenic Lafora disease, Lafora disease
RS121917876 Health Risk Likely pathogenic Myoclonic epilepsy of Lafora 2, Lafora disease, Myoclonic epilepsy of Lafora 2
RS1369766718 Health Risk Likely pathogenic —
RS1403101337 Health Risk Likely pathogenic Lafora disease, Lafora disease
RS1554136433 Health Risk Likely pathogenic —
RS1554136440 Health Risk Likely pathogenic —
RS1582030118 Health Risk Likely pathogenic —
RS200559475 Health Risk Likely pathogenic Lafora disease, Lafora disease
RS769144119 Health Risk Likely pathogenic Lafora disease, Lafora disease
RS950907157 Health Risk Likely pathogenic Lafora disease, Lafora disease
RS967125703 Health Risk Likely pathogenic Lafora disease, Lafora disease
RS1157872508 Health Risk Pathogenic Lafora disease, Lafora disease
RS1171412241 Health Risk Pathogenic Lafora disease, Lafora disease
RS1193718748 Health Risk Pathogenic Lafora disease, Lafora disease
RS1193841505 Health Risk Pathogenic Lafora disease, Lafora disease
RS1217276014 Health Risk Pathogenic Lafora disease, Lafora disease
RS121917875 Health Risk Pathogenic Myoclonic epilepsy of Lafora 2, Myoclonic epilepsy of Lafora 2
RS1362520746 Health Risk Pathogenic Lafora disease, Lafora disease, Lafora disease
RS137852859 Health Risk Pathogenic Myoclonic epilepsy of Lafora 2, Myoclonic epilepsy of Lafora 2
RS1783745550 Health Risk Pathogenic Lafora disease, Lafora disease
RS1783750860 Health Risk Pathogenic Lafora disease, Lafora disease
RS2150702964 Health Risk Pathogenic Lafora disease, Lafora disease
RS2150703022 Health Risk Pathogenic Lafora disease, Lafora disease
RS2533895492 Health Risk Pathogenic —
RS2533896412 Health Risk Pathogenic Lafora disease, Lafora disease
RS2533896908 Health Risk Pathogenic Lafora disease, Lafora disease
RS2533897871 Health Risk Pathogenic Lafora disease, Lafora disease
RS28940575 Health Risk Pathogenic Myoclonic epilepsy of Lafora 2, Lafora disease, Myoclonic epilepsy of Lafora 2
RS28940576 Health Risk Pathogenic Myoclonic epilepsy of Lafora 2, Lafora disease, NHLRC1-related disorder
RS587776542 Health Risk Pathogenic Myoclonic epilepsy of Lafora 2, Lafora disease, Inborn genetic diseases
RS587776543 Health Risk Pathogenic Myoclonic epilepsy of Lafora 2, Myoclonic epilepsy of Lafora 2
RS750055958 Health Risk Pathogenic Lafora disease, Lafora disease
RS757954108 Health Risk Pathogenic Lafora disease, Lafora disease
RS771702699 Health Risk Pathogenic Lafora disease, Lafora disease
RS78324544 Health Risk Pathogenic Lafora disease, Inborn genetic diseases, Lafora disease
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