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rs386834133

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834133(A;G)
Make rs386834133(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position1780287
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834133
ebirs386834133
HLIrs386834133
Exacrs386834133
Varsomers386834133
Maprs386834133
PheGenIrs386834133
hapmaprs386834133
1000 genomesrs386834133
hgdprs386834133
ensemblrs386834133
gopubmedrs386834133
geneviewrs386834133
scholarrs386834133
googlers386834133
pharmgkbrs386834133
gwascentralrs386834133
openSNPrs386834133
23andMers386834133
23andMe allrs386834133
SNP Nexus

SNPshotrs386834133
SNPdbers386834133
MSV3drs386834133
GWAS Ctlgrs386834133
Max Magnitude0
ClinVar
Risk rs386834133(G;G)
Alt rs386834133(G;G)
Reference rs386834133(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1728453A>G
CLNSRC ClinVar
CLNACC RCV000050127.1,


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