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rs386833743

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833743(C;T)
Make rs386833743(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28482182
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833743
ebirs386833743
HLIrs386833743
Exacrs386833743
Varsomers386833743
Maprs386833743
PheGenIrs386833743
hapmaprs386833743
1000 genomesrs386833743
hgdprs386833743
ensemblrs386833743
gopubmedrs386833743
geneviewrs386833743
scholarrs386833743
googlers386833743
pharmgkbrs386833743
gwascentralrs386833743
openSNPrs386833743
23andMers386833743
23andMe allrs386833743
SNP Nexus

SNPshotrs386833743
SNPdbers386833743
MSV3drs386833743
GWAS Ctlgrs386833743
Max Magnitude0
ClinVar
Risk rs386833743(T;T)
Alt rs386833743(T;T)
Reference rs386833743(C;C)
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.28493503G>A
CLNSRC ClinVar
CLNACC RCV000049707.1,


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