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rs386833701

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833701(G;T)
Make rs386833701(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28477739
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833701
ebirs386833701
HLIrs386833701
Exacrs386833701
Varsomers386833701
Maprs386833701
PheGenIrs386833701
hapmaprs386833701
1000 genomesrs386833701
hgdprs386833701
ensemblrs386833701
gopubmedrs386833701
geneviewrs386833701
scholarrs386833701
googlers386833701
pharmgkbrs386833701
gwascentralrs386833701
openSNPrs386833701
23andMers386833701
23andMe allrs386833701
SNP Nexus

SNPshotrs386833701
SNPdbers386833701
MSV3drs386833701
GWAS Ctlgrs386833701
Max Magnitude0
ClinVar
Risk rs386833701(T;T)
Alt rs386833701(T;T)
Reference rs386833701(G;G)
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.28489060C>A
CLNSRC ClinVar
CLNACC RCV000049662.1,


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