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rs386833976

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833976(C;C)
Make rs386833976(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position76996008
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833976
ebirs386833976
HLIrs386833976
Exacrs386833976
Varsomers386833976
Maprs386833976
PheGenIrs386833976
hapmaprs386833976
1000 genomesrs386833976
hgdprs386833976
ensemblrs386833976
gopubmedrs386833976
geneviewrs386833976
scholarrs386833976
googlers386833976
pharmgkbrs386833976
gwascentralrs386833976
openSNPrs386833976
23andMers386833976
23andMe allrs386833976
SNP Nexus

SNPshotrs386833976
SNPdbers386833976
MSV3drs386833976
GWAS Ctlgrs386833976
Max Magnitude0
ClinVar
Risk rs386833976(C;C)
Alt rs386833976(C;C)
Reference rs386833976(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.77570143T>C
CLNSRC ClinVar
CLNACC RCV000049953.1,


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