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rs386833715

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833715(-;-)
Make rs386833715(-;T)
Make rs386833715(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28487665
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833715
ebirs386833715
HLIrs386833715
Exacrs386833715
Varsomers386833715
Maprs386833715
PheGenIrs386833715
hapmaprs386833715
1000 genomesrs386833715
hgdprs386833715
ensemblrs386833715
gopubmedrs386833715
geneviewrs386833715
scholarrs386833715
googlers386833715
pharmgkbrs386833715
gwascentralrs386833715
openSNPrs386833715
23andMers386833715
23andMe allrs386833715
SNP Nexus

SNPshotrs386833715
SNPdbers386833715
MSV3drs386833715
GWAS Ctlgrs386833715
Max Magnitude0
ClinVar
Risk rs386833715(T;T)
Alt rs386833715(T;T)
Reference rs386833715(;)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene NPIPB8 CLN3
CLNDBN Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28498987dupA
CLNSRC ClinVar
CLNACC RCV000049676.1,


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