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rs386833703

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833703(A;G)
Make rs386833703(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28477586
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833703
ebirs386833703
HLIrs386833703
Exacrs386833703
Varsomers386833703
Maprs386833703
PheGenIrs386833703
hapmaprs386833703
1000 genomesrs386833703
hgdprs386833703
ensemblrs386833703
gopubmedrs386833703
geneviewrs386833703
scholarrs386833703
googlers386833703
pharmgkbrs386833703
gwascentralrs386833703
openSNPrs386833703
23andMers386833703
23andMe allrs386833703
SNP Nexus

SNPshotrs386833703
SNPdbers386833703
MSV3drs386833703
GWAS Ctlgrs386833703
Max Magnitude0
ClinVar
Risk rs386833703(G;G)
Alt rs386833703(G;G)
Reference rs386833703(A;A)
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.28488907T>C
CLNSRC ClinVar
CLNACC RCV000049664.1,


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