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rs386833744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833744(G;T)
Make rs386833744(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28482173
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833744
ebirs386833744
HLIrs386833744
Exacrs386833744
Varsomers386833744
Maprs386833744
PheGenIrs386833744
hapmaprs386833744
1000 genomesrs386833744
hgdprs386833744
ensemblrs386833744
gopubmedrs386833744
geneviewrs386833744
scholarrs386833744
googlers386833744
pharmgkbrs386833744
gwascentralrs386833744
openSNPrs386833744
23andMers386833744
23andMe allrs386833744
SNP Nexus

SNPshotrs386833744
SNPdbers386833744
MSV3drs386833744
GWAS Ctlgrs386833744
Max Magnitude0
ClinVar
Risk rs386833744(A,T;A,T)
Alt rs386833744(A,T;A,T)
Reference rs386833744(G;G)
Significance Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis not provided
Variation info
Gene NPIPB8 CLN3
CLNDBN Juvenile neuronal ceroid lipofuscinosis not provided
Reversed 1
HGVS NC_000016.9:g.28493494C>A; NC_000016.9:g.28493494C>T
CLNSRC ClinVar
CLNACC RCV000049708.1, RCV000187016.2,


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