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rs386833979

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833979(-;-)
Make rs386833979(-;C)
Make rs386833979(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position76996084
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833979
ebirs386833979
HLIrs386833979
Exacrs386833979
Varsomers386833979
Maprs386833979
PheGenIrs386833979
hapmaprs386833979
1000 genomesrs386833979
hgdprs386833979
ensemblrs386833979
gopubmedrs386833979
geneviewrs386833979
scholarrs386833979
googlers386833979
pharmgkbrs386833979
gwascentralrs386833979
openSNPrs386833979
23andMers386833979
23andMe allrs386833979
SNP Nexus

SNPshotrs386833979
SNPdbers386833979
MSV3drs386833979
GWAS Ctlgrs386833979
Max Magnitude0
ClinVar
Risk rs386833979(C;C)
Alt rs386833979(C;C)
Reference rs386833979(;)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77570219dupC
CLNSRC ClinVar
CLNACC RCV000049956.1,


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