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rs386833720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833720(-;-)
Make rs386833720(-;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28487492
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833720
ebirs386833720
HLIrs386833720
Exacrs386833720
Varsomers386833720
Maprs386833720
PheGenIrs386833720
hapmaprs386833720
1000 genomesrs386833720
hgdprs386833720
ensemblrs386833720
gopubmedrs386833720
geneviewrs386833720
scholarrs386833720
googlers386833720
pharmgkbrs386833720
gwascentralrs386833720
openSNPrs386833720
23andMers386833720
23andMe allrs386833720
SNP Nexus

SNPshotrs386833720
SNPdbers386833720
MSV3drs386833720
GWAS Ctlgrs386833720
Max Magnitude0
ClinVar
Risk rs386833720(;)
Alt rs386833720(;)
Reference rs386833720(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.28498813delC
CLNSRC ClinVar
CLNACC RCV000049681.1,


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