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rs386833709

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833709(C;T)
Make rs386833709(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28489298
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833709
ebirs386833709
HLIrs386833709
Exacrs386833709
Varsomers386833709
Maprs386833709
PheGenIrs386833709
hapmaprs386833709
1000 genomesrs386833709
hgdprs386833709
ensemblrs386833709
gopubmedrs386833709
geneviewrs386833709
scholarrs386833709
googlers386833709
pharmgkbrs386833709
gwascentralrs386833709
openSNPrs386833709
23andMers386833709
23andMe allrs386833709
SNP Nexus

SNPshotrs386833709
SNPdbers386833709
MSV3drs386833709
GWAS Ctlgrs386833709
Max Magnitude0
ClinVar
Risk rs386833709(T;T)
Alt rs386833709(T;T)
Reference rs386833709(C;C)
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.28500619G>A
CLNSRC ClinVar
CLNACC RCV000049670.1,


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