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rs386834123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
(GAA;GAA) 0 common in clinvar
Make rs386834123(-;-)
Make rs386834123(-;GAA)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771234
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834123
ebirs386834123
HLIrs386834123
Exacrs386834123
Varsomers386834123
Maprs386834123
PheGenIrs386834123
hapmaprs386834123
1000 genomesrs386834123
hgdprs386834123
ensemblrs386834123
gopubmedrs386834123
geneviewrs386834123
scholarrs386834123
googlers386834123
pharmgkbrs386834123
gwascentralrs386834123
openSNPrs386834123
23andMers386834123
23andMe allrs386834123
SNP Nexus

SNPshotrs386834123
SNPdbers386834123
MSV3drs386834123
GWAS Ctlgrs386834123
Max Magnitude0
ClinVar
Risk rs386834123(;)
Alt rs386834123(;)
Reference rs386834123(AGA;AGA)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1719400_1719402delGAA
CLNSRC ClinVar
CLNACC RCV000050116.1,


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