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rs386833694

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833694(C;T)
Make rs386833694(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28482161
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833694
ebirs386833694
HLIrs386833694
Exacrs386833694
Varsomers386833694
Maprs386833694
PheGenIrs386833694
hapmaprs386833694
1000 genomesrs386833694
hgdprs386833694
ensemblrs386833694
gopubmedrs386833694
geneviewrs386833694
scholarrs386833694
googlers386833694
pharmgkbrs386833694
gwascentralrs386833694
openSNPrs386833694
23andMers386833694
23andMe allrs386833694
SNP Nexus

SNPshotrs386833694
SNPdbers386833694
MSV3drs386833694
GWAS Ctlgrs386833694
Max Magnitude0
ClinVar
Risk rs386833694(T;T)
Alt rs386833694(T;T)
Reference rs386833694(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.28493482G>A
CLNSRC ClinVar
CLNACC RCV000049655.1,


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