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rs386833980

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833980(A;A)
Make rs386833980(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position76996086
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833980
ebirs386833980
HLIrs386833980
Exacrs386833980
Varsomers386833980
Maprs386833980
PheGenIrs386833980
hapmaprs386833980
1000 genomesrs386833980
hgdprs386833980
ensemblrs386833980
gopubmedrs386833980
geneviewrs386833980
scholarrs386833980
googlers386833980
pharmgkbrs386833980
gwascentralrs386833980
openSNPrs386833980
23andMers386833980
23andMe allrs386833980
SNP Nexus

SNPshotrs386833980
SNPdbers386833980
MSV3drs386833980
GWAS Ctlgrs386833980
Max Magnitude0
ClinVar
Risk rs386833980(A;A)
Alt rs386833980(A;A)
Reference rs386833980(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 5 not provided
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5 not provided
Reversed 0
HGVS NC_000013.10:g.77570221G>A
CLNSRC ClinVar
CLNACC RCV000049957.2, RCV000187071.1,


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