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rs386833697

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833697(C;T)
Make rs386833697(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28482107
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833697
ebirs386833697
HLIrs386833697
Exacrs386833697
Varsomers386833697
Maprs386833697
PheGenIrs386833697
hapmaprs386833697
1000 genomesrs386833697
hgdprs386833697
ensemblrs386833697
gopubmedrs386833697
geneviewrs386833697
scholarrs386833697
googlers386833697
pharmgkbrs386833697
gwascentralrs386833697
openSNPrs386833697
23andMers386833697
23andMe allrs386833697
SNP Nexus

SNPshotrs386833697
SNPdbers386833697
MSV3drs386833697
GWAS Ctlgrs386833697
Max Magnitude0
ClinVar
Risk rs386833697(T;T)
Alt rs386833697(T;T)
Reference rs386833697(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.28493428G>A
CLNSRC ClinVar
CLNACC RCV000049658.1,


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