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rs188259026

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs188259026(C;T)
Make rs188259026(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771563
GeneCLN8
is asnp
is mentioned by
dbSNPrs188259026
ebirs188259026
HLIrs188259026
Exacrs188259026
Varsomers188259026
Maprs188259026
PheGenIrs188259026
hapmaprs188259026
1000 genomesrs188259026
hgdprs188259026
ensemblrs188259026
gopubmedrs188259026
geneviewrs188259026
scholarrs188259026
googlers188259026
pharmgkbrs188259026
gwascentralrs188259026
openSNPrs188259026
23andMers188259026
23andMe allrs188259026
SNP Nexus

SNPshotrs188259026
SNPdbers188259026
MSV3drs188259026
GWAS Ctlgrs188259026
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs188259026(T;T)
Alt rs188259026(T;T)
Reference rs188259026(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.1719729C>T
CLNSRC ClinVar
CLNACC RCV000050125.1,


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