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rs386834139

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834139(-;-)
Make rs386834139(-;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771142
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834139
ebirs386834139
HLIrs386834139
Exacrs386834139
Varsomers386834139
Maprs386834139
PheGenIrs386834139
hapmaprs386834139
1000 genomesrs386834139
hgdprs386834139
ensemblrs386834139
gopubmedrs386834139
geneviewrs386834139
scholarrs386834139
googlers386834139
pharmgkbrs386834139
gwascentralrs386834139
openSNPrs386834139
23andMers386834139
23andMe allrs386834139
SNP Nexus

SNPshotrs386834139
SNPdbers386834139
MSV3drs386834139
GWAS Ctlgrs386834139
Max Magnitude0
ClinVar
Risk rs386834139(;)
Alt rs386834139(;)
Reference rs386834139(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1719308delG
CLNSRC ClinVar
CLNACC RCV000050133.1,


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