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rs386833707

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833707(-;-)
Make rs386833707(-;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28477561
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833707
ebirs386833707
HLIrs386833707
Exacrs386833707
Varsomers386833707
Maprs386833707
PheGenIrs386833707
hapmaprs386833707
1000 genomesrs386833707
hgdprs386833707
ensemblrs386833707
gopubmedrs386833707
geneviewrs386833707
scholarrs386833707
googlers386833707
pharmgkbrs386833707
gwascentralrs386833707
openSNPrs386833707
23andMers386833707
23andMe allrs386833707
SNP Nexus

SNPshotrs386833707
SNPdbers386833707
MSV3drs386833707
GWAS Ctlgrs386833707
Max Magnitude0
ClinVar
Risk rs386833707(;)
Alt rs386833707(;)
Reference rs386833707(G;G)
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.28488882delC
CLNSRC ClinVar
CLNACC RCV000049668.1,


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