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rs386833742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833742(G;T)
Make rs386833742(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28482199
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833742
ebirs386833742
HLIrs386833742
Exacrs386833742
Varsomers386833742
Maprs386833742
PheGenIrs386833742
hapmaprs386833742
1000 genomesrs386833742
hgdprs386833742
ensemblrs386833742
gopubmedrs386833742
geneviewrs386833742
scholarrs386833742
googlers386833742
pharmgkbrs386833742
gwascentralrs386833742
openSNPrs386833742
23andMers386833742
23andMe allrs386833742
SNP Nexus

SNPshotrs386833742
SNPdbers386833742
MSV3drs386833742
GWAS Ctlgrs386833742
Max Magnitude0
ClinVar
Risk rs386833742(T;T)
Alt rs386833742(T;T)
Reference rs386833742(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.28493520C>A
CLNSRC ClinVar
CLNACC RCV000049706.1,


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