Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833721(C;C)
Make rs386833721(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486663
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833721
ebirs386833721
HLIrs386833721
Exacrs386833721
Varsomers386833721
Maprs386833721
PheGenIrs386833721
hapmaprs386833721
1000 genomesrs386833721
hgdprs386833721
ensemblrs386833721
gopubmedrs386833721
geneviewrs386833721
scholarrs386833721
googlers386833721
pharmgkbrs386833721
gwascentralrs386833721
openSNPrs386833721
23andMers386833721
23andMe allrs386833721
SNP Nexus

SNPshotrs386833721
SNPdbers386833721
MSV3drs386833721
GWAS Ctlgrs386833721
Max Magnitude0
ClinVar
Risk rs386833721(C,T;C,T)
Alt rs386833721(C,T;C,T)
Reference rs386833721(G;G)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene CLN3 NPIPB8
CLNDBN Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28497984C>G
CLNSRC ClinVar
CLNACC RCV000049682.1,


[PMID 9311735OA-icon.png] Spectrum of mutations in the Batten disease gene, CLN3.


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