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rs386833735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833735(-;-)
Make rs386833735(-;G)
Make rs386833735(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486437
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833735
ebirs386833735
HLIrs386833735
Exacrs386833735
Varsomers386833735
Maprs386833735
PheGenIrs386833735
hapmaprs386833735
1000 genomesrs386833735
hgdprs386833735
ensemblrs386833735
gopubmedrs386833735
geneviewrs386833735
scholarrs386833735
googlers386833735
pharmgkbrs386833735
gwascentralrs386833735
openSNPrs386833735
23andMers386833735
23andMe allrs386833735
SNP Nexus

SNPshotrs386833735
SNPdbers386833735
MSV3drs386833735
GWAS Ctlgrs386833735
Max Magnitude0
ClinVar
Risk rs386833735(G;G)
Alt rs386833735(G;G)
Reference rs386833735(;)
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.28497759dupC
CLNSRC ClinVar
CLNACC RCV000049698.1,


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