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rs386834138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834138(C;G)
Make rs386834138(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position1780472
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834138
ebirs386834138
HLIrs386834138
Exacrs386834138
Varsomers386834138
Maprs386834138
PheGenIrs386834138
hapmaprs386834138
1000 genomesrs386834138
hgdprs386834138
ensemblrs386834138
gopubmedrs386834138
geneviewrs386834138
scholarrs386834138
googlers386834138
pharmgkbrs386834138
gwascentralrs386834138
openSNPrs386834138
23andMers386834138
23andMe allrs386834138
SNP Nexus

SNPshotrs386834138
SNPdbers386834138
MSV3drs386834138
GWAS Ctlgrs386834138
Max Magnitude0
ClinVar
Risk rs386834138(G;G)
Alt rs386834138(G;G)
Reference rs386834138(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1728638C>G
CLNSRC ClinVar
CLNACC RCV000050132.1,


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