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rs10949483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs10949483(A;A)
Make rs10949483(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position18122275
GeneNHLRC1
is asnp
is mentioned by
dbSNPrs10949483
ebirs10949483
HLIrs10949483
Exacrs10949483
Varsomers10949483
Maprs10949483
PheGenIrs10949483
hapmaprs10949483
1000 genomesrs10949483
hgdprs10949483
ensemblrs10949483
gopubmedrs10949483
geneviewrs10949483
scholarrs10949483
googlers10949483
pharmgkbrs10949483
gwascentralrs10949483
openSNPrs10949483
23andMers10949483
23andMe allrs10949483
SNP Nexus

SNPshotrs10949483
SNPdbers10949483
MSV3drs10949483
GWAS Ctlgrs10949483
GMAF0.3687
Max Magnitude0
Venter snp
Source plos
Gene NHLRC1
allele A
frequency
sift TOLERATED
HuRef 1103652795725
Disease Association 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.


Neighborrs28940576
Distance127


GET Evidence
NHLRC1-P111L
aa_change Pro111Leu
aa_change_short P111L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.335202
summary



ClinVar
Risk rs10949483(A;A)
Alt rs10949483(A;A)
Reference rs10949483(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene NHLRC1
CLNDBN not specified
Reversed 0
HGVS NC_000006.11:g.18122506G>A
CLNSRC HGMD
CLNACC RCV000117782.5,