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rs386833727

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833727(C;C)
Make rs386833727(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486602
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833727
ebirs386833727
HLIrs386833727
Exacrs386833727
Varsomers386833727
Maprs386833727
PheGenIrs386833727
hapmaprs386833727
1000 genomesrs386833727
hgdprs386833727
ensemblrs386833727
gopubmedrs386833727
geneviewrs386833727
scholarrs386833727
googlers386833727
pharmgkbrs386833727
gwascentralrs386833727
openSNPrs386833727
23andMers386833727
23andMe allrs386833727
SNP Nexus

SNPshotrs386833727
SNPdbers386833727
MSV3drs386833727
GWAS Ctlgrs386833727
Max Magnitude0
ClinVar
Risk rs386833727(C;C)
Alt rs386833727(C;C)
Reference rs386833727(T;T)
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.28497923A>G
CLNSRC ClinVar
CLNACC RCV000049689.1,


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