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rs386833966

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833966(-;-)
Make rs386833966(-;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position77000828
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833966
ebirs386833966
HLIrs386833966
Exacrs386833966
Varsomers386833966
Maprs386833966
PheGenIrs386833966
hapmaprs386833966
1000 genomesrs386833966
hgdprs386833966
ensemblrs386833966
gopubmedrs386833966
geneviewrs386833966
scholarrs386833966
googlers386833966
pharmgkbrs386833966
gwascentralrs386833966
openSNPrs386833966
23andMers386833966
23andMe allrs386833966
SNP Nexus

SNPshotrs386833966
SNPdbers386833966
MSV3drs386833966
GWAS Ctlgrs386833966
Max Magnitude0
ClinVar
Risk rs386833966(;)
Alt rs386833966(;)
Reference rs386833966(T;T)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77574963delT
CLNSRC ClinVar
CLNACC RCV000049941.1,


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