{{Rsnum
|rsid=10949483
|Gene=NHLRC1
|Chromosome=6
|position=18122275
|Orientation=plus
|GMAF=0.3687
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=NHLRC1
}}{{Venter SNP
|rsid=10949483
|allele=A
|frequency=
|uid=1103652795725
|type=homozygous_SNP
|hugo=NHLRC1
|ensembl gene=ENSG00000187566
|ensembl transcript=ENST00000340650
|sift=TOLERATED
|disease=Defects in NHLRC1 are a cause of Lafora disease (LD) (MIM:254780); also known as myoclonic epilepsy of Lafora (MELF) or epilepsy progressive myoclonic 2 (EPM2). LD is the most common and severe form of adolescent-onset progressive epilepsy. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. Atypical LD patients present childhood-onset educational and learning difficulties. LD inheritance is autosomal recessive with genetic heterogeneity, but the clinical presentation is homogeneous. LD occurs worldwide, but it is particularly common in the mediterranean countries of southern Europe and northern Africa, in southern India and in the Middle East. At the cellular level, LD is characterized by accumulation of starch-like polyglucosans called Lafora bodies. Among other conditions involving polyglucosans, LD is unique in that the inclusions are in neuronal dendrites but not axons and the forming polyglucosan fibrils are associated with the endoplasmic reticulum.
}}
{{ neighbor
| rsid = 28940576
| distance = 127
}}

{{GET Evidence
|gene=NHLRC1
|aa_change=Pro111Leu
|aa_change_short=P111L
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10949483
|overall_frequency_n=3527
|overall_frequency_d=10522
|overall_frequency=0.335202
|n_genomes=27
|n_genomes_annotated=0
|n_haplomes=36
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.992
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=7
|autoscore=4
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}