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rs386833732

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833732(-;-)
Make rs386833732(-;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486455
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833732
ebirs386833732
HLIrs386833732
Exacrs386833732
Varsomers386833732
Maprs386833732
PheGenIrs386833732
hapmaprs386833732
1000 genomesrs386833732
hgdprs386833732
ensemblrs386833732
gopubmedrs386833732
geneviewrs386833732
scholarrs386833732
googlers386833732
pharmgkbrs386833732
gwascentralrs386833732
openSNPrs386833732
23andMers386833732
23andMe allrs386833732
SNP Nexus

SNPshotrs386833732
SNPdbers386833732
MSV3drs386833732
GWAS Ctlgrs386833732
Max Magnitude0
ClinVar
Risk rs386833732(;)
Alt rs386833732(;)
Reference rs386833732(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.28497776delC
CLNSRC ClinVar
CLNACC RCV000049695.1,


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