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rs386833730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833730(C;C)
Make rs386833730(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486464
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833730
ebirs386833730
HLIrs386833730
Exacrs386833730
Varsomers386833730
Maprs386833730
PheGenIrs386833730
hapmaprs386833730
1000 genomesrs386833730
hgdprs386833730
ensemblrs386833730
gopubmedrs386833730
geneviewrs386833730
scholarrs386833730
googlers386833730
pharmgkbrs386833730
gwascentralrs386833730
openSNPrs386833730
23andMers386833730
23andMe allrs386833730
SNP Nexus

SNPshotrs386833730
SNPdbers386833730
MSV3drs386833730
GWAS Ctlgrs386833730
Max Magnitude0
ClinVar
Risk rs386833730(C;C)
Alt rs386833730(C;C)
Reference rs386833730(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.28497785C>G
CLNSRC ClinVar
CLNACC RCV000049693.1,


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