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rs386833722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833722(A;A)
Make rs386833722(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486651
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833722
ebirs386833722
HLIrs386833722
Exacrs386833722
Varsomers386833722
Maprs386833722
PheGenIrs386833722
hapmaprs386833722
1000 genomesrs386833722
hgdprs386833722
ensemblrs386833722
gopubmedrs386833722
geneviewrs386833722
scholarrs386833722
googlers386833722
pharmgkbrs386833722
gwascentralrs386833722
openSNPrs386833722
23andMers386833722
23andMe allrs386833722
SNP Nexus

SNPshotrs386833722
SNPdbers386833722
MSV3drs386833722
GWAS Ctlgrs386833722
Max Magnitude0
ClinVar
Risk rs386833722(A,C;A,C)
Alt rs386833722(A,C;A,C)
Reference rs386833722(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.28497972C>G; NC_000016.9:g.28497972C>T
CLNSRC ClinVar
CLNACC RCV000049684.1, RCV000049683.1,


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