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rs386833974

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833974(C;T)
Make rs386833974(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position76995980
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833974
ebirs386833974
HLIrs386833974
Exacrs386833974
Varsomers386833974
Maprs386833974
PheGenIrs386833974
hapmaprs386833974
1000 genomesrs386833974
hgdprs386833974
ensemblrs386833974
gopubmedrs386833974
geneviewrs386833974
scholarrs386833974
googlers386833974
pharmgkbrs386833974
gwascentralrs386833974
openSNPrs386833974
23andMers386833974
23andMe allrs386833974
SNP Nexus

SNPshotrs386833974
SNPdbers386833974
MSV3drs386833974
GWAS Ctlgrs386833974
Max Magnitude0
ClinVar
Risk rs386833974(T;T)
Alt rs386833974(T;T)
Reference rs386833974(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.77570115C>T
CLNSRC ClinVar
CLNACC RCV000049951.1,


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