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rs386834137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834137(-;-)
Make rs386834137(-;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771120
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834137
ebirs386834137
HLIrs386834137
Exacrs386834137
Varsomers386834137
Maprs386834137
PheGenIrs386834137
hapmaprs386834137
1000 genomesrs386834137
hgdprs386834137
ensemblrs386834137
gopubmedrs386834137
geneviewrs386834137
scholarrs386834137
googlers386834137
pharmgkbrs386834137
gwascentralrs386834137
openSNPrs386834137
23andMers386834137
23andMe allrs386834137
SNP Nexus

SNPshotrs386834137
SNPdbers386834137
MSV3drs386834137
GWAS Ctlgrs386834137
Max Magnitude0
ClinVar
Risk rs386834137(;)
Alt rs386834137(;)
Reference rs386834137(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.1719286delG
CLNSRC ClinVar
CLNACC RCV000050131.1,


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