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rs386833970

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833970(-;-)
Make rs386833970(-;C)
Make rs386833970(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position76992242
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833970
ebirs386833970
HLIrs386833970
Exacrs386833970
Varsomers386833970
Maprs386833970
PheGenIrs386833970
hapmaprs386833970
1000 genomesrs386833970
hgdprs386833970
ensemblrs386833970
gopubmedrs386833970
geneviewrs386833970
scholarrs386833970
googlers386833970
pharmgkbrs386833970
gwascentralrs386833970
openSNPrs386833970
23andMers386833970
23andMe allrs386833970
SNP Nexus

SNPshotrs386833970
SNPdbers386833970
MSV3drs386833970
GWAS Ctlgrs386833970
Max Magnitude0
ClinVar
Risk rs386833970(C;C)
Alt rs386833970(C;C)
Reference rs386833970(;)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77566377dupC
CLNSRC ClinVar
CLNACC RCV000049945.1,


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