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rs386833968

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833968(G;T)
Make rs386833968(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position77000882
GeneCLN5, FBXL3
is asnp
is mentioned by
dbSNPrs386833968
dbSNP (old)rs386833968
ClinGenrs386833968
ebirs386833968
HLIrs386833968
Exacrs386833968
Gnomadrs386833968
Varsomers386833968
Maprs386833968
PheGenIrs386833968
Biobankrs386833968
1000 genomesrs386833968
hgdprs386833968
ensemblrs386833968
gopubmedrs386833968
geneviewrs386833968
scholarrs386833968
googlers386833968
pharmgkbrs386833968
gwascentralrs386833968
openSNPrs386833968
23andMers386833968
23andMe allrs386833968
SNP Nexus

SNPshotrs386833968
SNPdbers386833968
MSV3drs386833968
GWAS Ctlgrs386833968
Max Magnitude0
ClinVar
Risk rs386833968(A;A) rs386833968(T;T)
Alt rs386833968(A;A) rs386833968(T;T)
Reference Rs386833968(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77575017G>T
CLNSRC ClinVar
CLNACC RCV000049943.1,


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