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Rs121434286

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Orientationminus
is asnp
is mentioned by
dbSNPrs121434286
PheGenIrs121434286
nextbiors121434286
hapmaprs121434286
1000 genomesrs121434286
hgdprs121434286
ensemblrs121434286
gopubmedrs121434286
geneviewrs121434286
scholarrs121434286
googlers121434286
pharmgkbrs121434286
gwascentralrs121434286
openSNPrs121434286
23andMers121434286
23andMe allrs121434286
SNP Nexus

SNPshotrs121434286
SNPdbers121434286
MSV3drs121434286
GeneCLN3
Chromosome16
Orientationminus
Position28482500
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434286(A;A)
Make rs121434286(A;G)
OMIM607042
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434286(A,T;A,T)
Alt rs121434286(A,T;A,T)
Reference rs121434286(G;G)
Significance 5
Disease Juvenile neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
ClinVar info
Gene CLN3
CLNDBN Juvenile neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 3, protracted
Reversed 1
CLNHGVS NC_000016.9:g.28493821C>A; NC_000016.9:g.28493821C>T
CLNSRC GeneReviews, OMIM Allelic Variant
CLNACC RCV000049702.1, RCV000003735.1, RCV000055839.1


[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.