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rs386833717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs386833717(-;CC)
Make rs386833717(CC;CC)
ReferenceGRCh38 38.1/141
Chromosome16
Position28487536
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833717
ClinGenrs386833717
ebirs386833717
HLIrs386833717
Exacrs386833717
Varsomers386833717
Maprs386833717
PheGenIrs386833717
hapmaprs386833717
1000 genomesrs386833717
hgdprs386833717
ensemblrs386833717
gopubmedrs386833717
geneviewrs386833717
scholarrs386833717
googlers386833717
pharmgkbrs386833717
gwascentralrs386833717
openSNPrs386833717
23andMers386833717
23andMe allrs386833717
SNP Nexus

SNPshotrs386833717
SNPdbers386833717
MSV3drs386833717
GWAS Ctlgrs386833717
Max Magnitude0
ClinVar
Risk rs386833717(CC;CC)
Alt rs386833717(CC;CC)
Reference Rs386833717(-;-)
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.28498858_28498859dupGG
CLNSRC ClinVar
CLNACC RCV000049678.1,


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