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rs386834127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834127(C;T)
Make rs386834127(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771469
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834127
ebirs386834127
HLIrs386834127
Exacrs386834127
Varsomers386834127
Maprs386834127
PheGenIrs386834127
hapmaprs386834127
1000 genomesrs386834127
hgdprs386834127
ensemblrs386834127
gopubmedrs386834127
geneviewrs386834127
scholarrs386834127
googlers386834127
pharmgkbrs386834127
gwascentralrs386834127
openSNPrs386834127
23andMers386834127
23andMe allrs386834127
SNP Nexus

SNPshotrs386834127
SNPdbers386834127
MSV3drs386834127
GWAS Ctlgrs386834127
Max Magnitude0
ClinVar
Risk rs386834127(T;T)
Alt rs386834127(T;T)
Reference rs386834127(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.1719635C>T
CLNSRC ClinVar
CLNACC RCV000050120.1,


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