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rs386833705

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833705(A;A)
Make rs386833705(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28489387
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833705
ebirs386833705
HLIrs386833705
Exacrs386833705
Varsomers386833705
Maprs386833705
PheGenIrs386833705
hapmaprs386833705
1000 genomesrs386833705
hgdprs386833705
ensemblrs386833705
gopubmedrs386833705
geneviewrs386833705
scholarrs386833705
googlers386833705
pharmgkbrs386833705
gwascentralrs386833705
openSNPrs386833705
23andMers386833705
23andMe allrs386833705
SNP Nexus

SNPshotrs386833705
SNPdbers386833705
MSV3drs386833705
GWAS Ctlgrs386833705
Max Magnitude0
ClinVar
Risk rs386833705(A;A)
Alt rs386833705(A;A)
Reference rs386833705(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.28500708C>T
CLNSRC ClinVar
CLNACC RCV000049666.1,


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