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rs386833702

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833702(G;T)
Make rs386833702(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28477636
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833702
ebirs386833702
HLIrs386833702
Exacrs386833702
Varsomers386833702
Maprs386833702
PheGenIrs386833702
hapmaprs386833702
1000 genomesrs386833702
hgdprs386833702
ensemblrs386833702
gopubmedrs386833702
geneviewrs386833702
scholarrs386833702
googlers386833702
pharmgkbrs386833702
gwascentralrs386833702
openSNPrs386833702
23andMers386833702
23andMe allrs386833702
SNP Nexus

SNPshotrs386833702
SNPdbers386833702
MSV3drs386833702
GWAS Ctlgrs386833702
Max Magnitude0
ClinVar
Risk rs386833702(T;T)
Alt rs386833702(T;T)
Reference rs386833702(G;G)
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.28488957C>A
CLNSRC ClinVar
CLNACC RCV000049663.1,


[PMID 9311735OA-icon.png] Spectrum of mutations in the Batten disease gene, CLN3.


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