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rs386833698

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833698(A;C)
Make rs386833698(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position28482102
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833698
ebirs386833698
HLIrs386833698
Exacrs386833698
Varsomers386833698
Maprs386833698
PheGenIrs386833698
hapmaprs386833698
1000 genomesrs386833698
hgdprs386833698
ensemblrs386833698
gopubmedrs386833698
geneviewrs386833698
scholarrs386833698
googlers386833698
pharmgkbrs386833698
gwascentralrs386833698
openSNPrs386833698
23andMers386833698
23andMe allrs386833698
SNP Nexus

SNPshotrs386833698
SNPdbers386833698
MSV3drs386833698
GWAS Ctlgrs386833698
Max Magnitude0
ClinVar
Risk rs386833698(C;C)
Alt rs386833698(C;C)
Reference rs386833698(A;A)
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.28493423T>G
CLNSRC ClinVar
CLNACC RCV000049659.1,


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