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rs386833731

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833731(C;C)
Make rs386833731(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486459
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833731
ebirs386833731
HLIrs386833731
Exacrs386833731
Varsomers386833731
Maprs386833731
PheGenIrs386833731
hapmaprs386833731
1000 genomesrs386833731
hgdprs386833731
ensemblrs386833731
gopubmedrs386833731
geneviewrs386833731
scholarrs386833731
googlers386833731
pharmgkbrs386833731
gwascentralrs386833731
openSNPrs386833731
23andMers386833731
23andMe allrs386833731
SNP Nexus

SNPshotrs386833731
SNPdbers386833731
MSV3drs386833731
GWAS Ctlgrs386833731
Max Magnitude0
ClinVar
Risk rs386833731(C;C)
Alt rs386833731(C;C)
Reference rs386833731(G;G)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene NPIPB8 CLN3
CLNDBN Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28497780C>G
CLNSRC ClinVar
CLNACC RCV000049694.1,


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