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rs386833977

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833977(C;T)
Make rs386833977(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position76996028
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833977
ebirs386833977
HLIrs386833977
Exacrs386833977
Varsomers386833977
Maprs386833977
PheGenIrs386833977
hapmaprs386833977
1000 genomesrs386833977
hgdprs386833977
ensemblrs386833977
gopubmedrs386833977
geneviewrs386833977
scholarrs386833977
googlers386833977
pharmgkbrs386833977
gwascentralrs386833977
openSNPrs386833977
23andMers386833977
23andMe allrs386833977
SNP Nexus

SNPshotrs386833977
SNPdbers386833977
MSV3drs386833977
GWAS Ctlgrs386833977
Max Magnitude0
ClinVar
Risk rs386833977(T;T)
Alt rs386833977(T;T)
Reference rs386833977(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77570163C>T
CLNSRC ClinVar
CLNACC RCV000049954.1,


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