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rs386833734

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833734(G;T)
Make rs386833734(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486442
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833734
ebirs386833734
HLIrs386833734
Exacrs386833734
Varsomers386833734
Maprs386833734
PheGenIrs386833734
hapmaprs386833734
1000 genomesrs386833734
hgdprs386833734
ensemblrs386833734
gopubmedrs386833734
geneviewrs386833734
scholarrs386833734
googlers386833734
pharmgkbrs386833734
gwascentralrs386833734
openSNPrs386833734
23andMers386833734
23andMe allrs386833734
SNP Nexus

SNPshotrs386833734
SNPdbers386833734
MSV3drs386833734
GWAS Ctlgrs386833734
Max Magnitude0
ClinVar
Risk rs386833734(T;T)
Alt rs386833734(T;T)
Reference rs386833734(G;G)
Significance Other
Disease Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene NPIPB8 CLN3
CLNDBN Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28497763C>A
CLNSRC ClinVar
CLNACC RCV000049697.3,


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