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rs386834128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834128(C;T)
Make rs386834128(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771518
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834128
ebirs386834128
HLIrs386834128
Exacrs386834128
Varsomers386834128
Maprs386834128
PheGenIrs386834128
hapmaprs386834128
1000 genomesrs386834128
hgdprs386834128
ensemblrs386834128
gopubmedrs386834128
geneviewrs386834128
scholarrs386834128
googlers386834128
pharmgkbrs386834128
gwascentralrs386834128
openSNPrs386834128
23andMers386834128
23andMe allrs386834128
SNP Nexus

SNPshotrs386834128
SNPdbers386834128
MSV3drs386834128
GWAS Ctlgrs386834128
Max Magnitude0
ClinVar
Risk rs386834128(T;T)
Alt rs386834128(T;T)
Reference rs386834128(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1719684C>T
CLNSRC ClinVar
CLNACC RCV000050121.1,


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