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rs386833712

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833712(-;-)
Make rs386833712(-;G)
Make rs386833712(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28488651
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833712
ebirs386833712
HLIrs386833712
Exacrs386833712
Varsomers386833712
Maprs386833712
PheGenIrs386833712
hapmaprs386833712
1000 genomesrs386833712
hgdprs386833712
ensemblrs386833712
gopubmedrs386833712
geneviewrs386833712
scholarrs386833712
googlers386833712
pharmgkbrs386833712
gwascentralrs386833712
openSNPrs386833712
23andMers386833712
23andMe allrs386833712
SNP Nexus

SNPshotrs386833712
SNPdbers386833712
MSV3drs386833712
GWAS Ctlgrs386833712
Max Magnitude0
ClinVar
Risk rs386833712(G;G)
Alt rs386833712(G;G)
Reference rs386833712(;)
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.28499973dupC
CLNSRC ClinVar
CLNACC RCV000049673.1,


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