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rs386833737

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833737(C;T)
Make rs386833737(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486393
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833737
ebirs386833737
HLIrs386833737
Exacrs386833737
Varsomers386833737
Maprs386833737
PheGenIrs386833737
hapmaprs386833737
1000 genomesrs386833737
hgdprs386833737
ensemblrs386833737
gopubmedrs386833737
geneviewrs386833737
scholarrs386833737
googlers386833737
pharmgkbrs386833737
gwascentralrs386833737
openSNPrs386833737
23andMers386833737
23andMe allrs386833737
SNP Nexus

SNPshotrs386833737
SNPdbers386833737
MSV3drs386833737
GWAS Ctlgrs386833737
Max Magnitude0
ClinVar
Risk rs386833737(T;T)
Alt rs386833737(T;T)
Reference rs386833737(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.28497714G>A
CLNSRC ClinVar
CLNACC RCV000049700.1,


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