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rs386833713

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833713(C;T)
Make rs386833713(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28488620
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833713
ebirs386833713
HLIrs386833713
Exacrs386833713
Varsomers386833713
Maprs386833713
PheGenIrs386833713
hapmaprs386833713
1000 genomesrs386833713
hgdprs386833713
ensemblrs386833713
gopubmedrs386833713
geneviewrs386833713
scholarrs386833713
googlers386833713
pharmgkbrs386833713
gwascentralrs386833713
openSNPrs386833713
23andMers386833713
23andMe allrs386833713
SNP Nexus

SNPshotrs386833713
SNPdbers386833713
MSV3drs386833713
GWAS Ctlgrs386833713
Max Magnitude0
ClinVar
Risk rs386833713(T;T)
Alt rs386833713(T;T)
Reference rs386833713(C;C)
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.28499941G>A
CLNSRC ClinVar
CLNACC RCV000049674.1,


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