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rs386833710

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833710(G;G)
Make rs386833710(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28489288
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833710
ebirs386833710
HLIrs386833710
Exacrs386833710
Varsomers386833710
Maprs386833710
PheGenIrs386833710
hapmaprs386833710
1000 genomesrs386833710
hgdprs386833710
ensemblrs386833710
gopubmedrs386833710
geneviewrs386833710
scholarrs386833710
googlers386833710
pharmgkbrs386833710
gwascentralrs386833710
openSNPrs386833710
23andMers386833710
23andMe allrs386833710
SNP Nexus

SNPshotrs386833710
SNPdbers386833710
MSV3drs386833710
GWAS Ctlgrs386833710
Max Magnitude0
ClinVar
Risk rs386833710(G;G)
Alt rs386833710(G;G)
Reference rs386833710(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.28500609A>C
CLNSRC ClinVar
CLNACC RCV000049671.1,


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