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rs386834124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834124(A;A)
Make rs386834124(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771263
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834124
ebirs386834124
HLIrs386834124
Exacrs386834124
Varsomers386834124
Maprs386834124
PheGenIrs386834124
hapmaprs386834124
1000 genomesrs386834124
hgdprs386834124
ensemblrs386834124
gopubmedrs386834124
geneviewrs386834124
scholarrs386834124
googlers386834124
pharmgkbrs386834124
gwascentralrs386834124
openSNPrs386834124
23andMers386834124
23andMe allrs386834124
SNP Nexus

SNPshotrs386834124
SNPdbers386834124
MSV3drs386834124
GWAS Ctlgrs386834124
Max Magnitude0
ClinVar
Risk rs386834124(A;A)
Alt rs386834124(A;A)
Reference rs386834124(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.1719429G>A
CLNSRC ClinVar
CLNACC RCV000050117.1,


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