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rs386833695

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833695(A;A)
Make rs386833695(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28482160
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833695
ebirs386833695
HLIrs386833695
Exacrs386833695
Varsomers386833695
Maprs386833695
PheGenIrs386833695
hapmaprs386833695
1000 genomesrs386833695
hgdprs386833695
ensemblrs386833695
gopubmedrs386833695
geneviewrs386833695
scholarrs386833695
googlers386833695
pharmgkbrs386833695
gwascentralrs386833695
openSNPrs386833695
23andMers386833695
23andMe allrs386833695
SNP Nexus

SNPshotrs386833695
SNPdbers386833695
MSV3drs386833695
GWAS Ctlgrs386833695
Max Magnitude0
ClinVar
Risk rs386833695(A;A)
Alt rs386833695(A;A)
Reference rs386833695(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.28493481C>T
CLNSRC ClinVar
CLNACC RCV000049656.2,


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