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rs386833740

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833740(-;-)
Make rs386833740(-;A)
Make rs386833740(A;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position28482344
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833740
ebirs386833740
HLIrs386833740
Exacrs386833740
Varsomers386833740
Maprs386833740
PheGenIrs386833740
hapmaprs386833740
1000 genomesrs386833740
hgdprs386833740
ensemblrs386833740
gopubmedrs386833740
geneviewrs386833740
scholarrs386833740
googlers386833740
pharmgkbrs386833740
gwascentralrs386833740
openSNPrs386833740
23andMers386833740
23andMe allrs386833740
SNP Nexus

SNPshotrs386833740
SNPdbers386833740
MSV3drs386833740
GWAS Ctlgrs386833740
Max Magnitude0
ClinVar
Risk rs386833740(A;A)
Alt rs386833740(A;A)
Reference rs386833740(;)
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.28493666dupT
CLNSRC ClinVar
CLNACC RCV000049704.1,


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