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rs386833738

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833738(A;C)
Make rs386833738(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position28484003
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833738
ebirs386833738
HLIrs386833738
Exacrs386833738
Varsomers386833738
Maprs386833738
PheGenIrs386833738
hapmaprs386833738
1000 genomesrs386833738
hgdprs386833738
ensemblrs386833738
gopubmedrs386833738
geneviewrs386833738
scholarrs386833738
googlers386833738
pharmgkbrs386833738
gwascentralrs386833738
openSNPrs386833738
23andMers386833738
23andMe allrs386833738
SNP Nexus

SNPshotrs386833738
SNPdbers386833738
MSV3drs386833738
GWAS Ctlgrs386833738
Max Magnitude0
ClinVar
Risk rs386833738(C;C)
Alt rs386833738(C;C)
Reference rs386833738(A;A)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis not specified
Variation info
Gene CLN3 NPIPB8
CLNDBN Juvenile neuronal ceroid lipofuscinosis not specified
Reversed 1
HGVS NC_000016.9:g.28495324T>G
CLNSRC ClinVar
CLNACC RCV000049701.1, RCV000187036.1,


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