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rs386834134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834134(G;T)
Make rs386834134(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position1780317
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834134
ebirs386834134
HLIrs386834134
Exacrs386834134
Varsomers386834134
Maprs386834134
PheGenIrs386834134
hapmaprs386834134
1000 genomesrs386834134
hgdprs386834134
ensemblrs386834134
gopubmedrs386834134
geneviewrs386834134
scholarrs386834134
googlers386834134
pharmgkbrs386834134
gwascentralrs386834134
openSNPrs386834134
23andMers386834134
23andMe allrs386834134
SNP Nexus

SNPshotrs386834134
SNPdbers386834134
MSV3drs386834134
GWAS Ctlgrs386834134
Max Magnitude0
ClinVar
Risk rs386834134(A,T;A,T)
Alt rs386834134(A,T;A,T)
Reference rs386834134(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1728483G>T
CLNSRC ClinVar
CLNACC RCV000050128.1,


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