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rs386834131

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834131(C;T)
Make rs386834131(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771561
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834131
ebirs386834131
HLIrs386834131
Exacrs386834131
Varsomers386834131
Maprs386834131
PheGenIrs386834131
hapmaprs386834131
1000 genomesrs386834131
hgdprs386834131
ensemblrs386834131
gopubmedrs386834131
geneviewrs386834131
scholarrs386834131
googlers386834131
pharmgkbrs386834131
gwascentralrs386834131
openSNPrs386834131
23andMers386834131
23andMe allrs386834131
SNP Nexus

SNPshotrs386834131
SNPdbers386834131
MSV3drs386834131
GWAS Ctlgrs386834131
Max Magnitude0
ClinVar
Risk rs386834131(T;T)
Alt rs386834131(T;T)
Reference rs386834131(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.1719727C>T
CLNSRC ClinVar
CLNACC RCV000050124.1,


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