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rs386833739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833739(A;A)
Make rs386833739(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28482472
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833739
ebirs386833739
HLIrs386833739
Exacrs386833739
Varsomers386833739
Maprs386833739
PheGenIrs386833739
hapmaprs386833739
1000 genomesrs386833739
hgdprs386833739
ensemblrs386833739
gopubmedrs386833739
geneviewrs386833739
scholarrs386833739
googlers386833739
pharmgkbrs386833739
gwascentralrs386833739
openSNPrs386833739
23andMers386833739
23andMe allrs386833739
SNP Nexus

SNPshotrs386833739
SNPdbers386833739
MSV3drs386833739
GWAS Ctlgrs386833739
Max Magnitude0
ClinVar
Risk rs386833739(A;A)
Alt rs386833739(A;A)
Reference rs386833739(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.28493793C>T
CLNSRC ClinVar
CLNACC RCV000049703.1,


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