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rs386833733

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833733(A;A)
Make rs386833733(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486449
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833733
ebirs386833733
HLIrs386833733
Exacrs386833733
Varsomers386833733
Maprs386833733
PheGenIrs386833733
hapmaprs386833733
1000 genomesrs386833733
hgdprs386833733
ensemblrs386833733
gopubmedrs386833733
geneviewrs386833733
scholarrs386833733
googlers386833733
pharmgkbrs386833733
gwascentralrs386833733
openSNPrs386833733
23andMers386833733
23andMe allrs386833733
SNP Nexus

SNPshotrs386833733
SNPdbers386833733
MSV3drs386833733
GWAS Ctlgrs386833733
Max Magnitude0
ClinVar
Risk rs386833733(A;A)
Alt rs386833733(A;A)
Reference rs386833733(G;G)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene CLN3 NPIPB8
CLNDBN Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28497770C>T
CLNSRC ClinVar
CLNACC RCV000049696.1,


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