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rs386833736

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833736(-;-)
Make rs386833736(-;T)
Make rs386833736(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486401
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833736
ebirs386833736
HLIrs386833736
Exacrs386833736
Varsomers386833736
Maprs386833736
PheGenIrs386833736
hapmaprs386833736
1000 genomesrs386833736
hgdprs386833736
ensemblrs386833736
gopubmedrs386833736
geneviewrs386833736
scholarrs386833736
googlers386833736
pharmgkbrs386833736
gwascentralrs386833736
openSNPrs386833736
23andMers386833736
23andMe allrs386833736
SNP Nexus

SNPshotrs386833736
SNPdbers386833736
MSV3drs386833736
GWAS Ctlgrs386833736
Max Magnitude0
ClinVar
Risk rs386833736(T;T)
Alt rs386833736(T;T)
Reference rs386833736(;)
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.28497723dupA
CLNSRC ClinVar
CLNACC RCV000049699.1,


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