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rs386833719

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833719(C;C)
Make rs386833719(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28487516
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833719
ebirs386833719
HLIrs386833719
Exacrs386833719
Varsomers386833719
Maprs386833719
PheGenIrs386833719
hapmaprs386833719
1000 genomesrs386833719
hgdprs386833719
ensemblrs386833719
gopubmedrs386833719
geneviewrs386833719
scholarrs386833719
googlers386833719
pharmgkbrs386833719
gwascentralrs386833719
openSNPrs386833719
23andMers386833719
23andMe allrs386833719
SNP Nexus

SNPshotrs386833719
SNPdbers386833719
MSV3drs386833719
GWAS Ctlgrs386833719
Max Magnitude0
ClinVar
Risk rs386833719(C;C)
Alt rs386833719(C;C)
Reference Rs386833719(T;T)
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.28498837A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000049680.1,


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