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rs386833716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833716(A;A)
Make rs386833716(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28487662
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833716
ebirs386833716
HLIrs386833716
Exacrs386833716
Varsomers386833716
Maprs386833716
PheGenIrs386833716
hapmaprs386833716
1000 genomesrs386833716
hgdprs386833716
ensemblrs386833716
gopubmedrs386833716
geneviewrs386833716
scholarrs386833716
googlers386833716
pharmgkbrs386833716
gwascentralrs386833716
openSNPrs386833716
23andMers386833716
23andMe allrs386833716
SNP Nexus

SNPshotrs386833716
SNPdbers386833716
MSV3drs386833716
GWAS Ctlgrs386833716
Max Magnitude0
ClinVar
Risk rs386833716(A;A)
Alt rs386833716(A;A)
Reference rs386833716(G;G)
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.28498983C>T
CLNSRC ClinVar
CLNACC RCV000049677.1,


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