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rs386833718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833718(-;-)
Make rs386833718(-;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position28487537
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833718
ebirs386833718
HLIrs386833718
Exacrs386833718
Varsomers386833718
Maprs386833718
PheGenIrs386833718
hapmaprs386833718
1000 genomesrs386833718
hgdprs386833718
ensemblrs386833718
gopubmedrs386833718
geneviewrs386833718
scholarrs386833718
googlers386833718
pharmgkbrs386833718
gwascentralrs386833718
openSNPrs386833718
23andMers386833718
23andMe allrs386833718
SNP Nexus

SNPshotrs386833718
SNPdbers386833718
MSV3drs386833718
GWAS Ctlgrs386833718
Max Magnitude0
ClinVar
Risk rs386833718(;)
Alt rs386833718(;)
Reference rs386833718(C;C)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene CLN3 NPIPB8
CLNDBN Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28498858delG
CLNSRC ClinVar
CLNACC RCV000049679.1,


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