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rs386834135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTG;GTG) 0 common in clinvar
(TGG;TGG) 0 common in clinvar
Make rs386834135(-;-)
Make rs386834135(-;TGG)
ReferenceGRCh38 38.1/141
Chromosome8
Position1780343
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834135
ebirs386834135
HLIrs386834135
Exacrs386834135
Varsomers386834135
Maprs386834135
PheGenIrs386834135
hapmaprs386834135
1000 genomesrs386834135
hgdprs386834135
ensemblrs386834135
gopubmedrs386834135
geneviewrs386834135
scholarrs386834135
googlers386834135
pharmgkbrs386834135
gwascentralrs386834135
openSNPrs386834135
23andMers386834135
23andMe allrs386834135
SNP Nexus

SNPshotrs386834135
SNPdbers386834135
MSV3drs386834135
GWAS Ctlgrs386834135
Max Magnitude0
ClinVar
Risk rs386834135(;)
Alt rs386834135(;)
Reference rs386834135(GTG;GTG)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1728509_1728511delTGG
CLNSRC ClinVar
CLNACC RCV000050129.1,


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