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rs386833704

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833704(A;A)
Make rs386833704(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28491477
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833704
ebirs386833704
HLIrs386833704
Exacrs386833704
Varsomers386833704
Maprs386833704
PheGenIrs386833704
hapmaprs386833704
1000 genomesrs386833704
hgdprs386833704
ensemblrs386833704
gopubmedrs386833704
geneviewrs386833704
scholarrs386833704
googlers386833704
pharmgkbrs386833704
gwascentralrs386833704
openSNPrs386833704
23andMers386833704
23andMe allrs386833704
SNP Nexus

SNPshotrs386833704
SNPdbers386833704
MSV3drs386833704
GWAS Ctlgrs386833704
Max Magnitude0
ClinVar
Risk rs386833704(A;A)
Alt rs386833704(A;A)
Reference rs386833704(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.28502798C>T
CLNSRC ClinVar
CLNACC RCV000049665.1,


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