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rs386833723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833723(C;C)
Make rs386833723(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486639
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833723
ebirs386833723
HLIrs386833723
Exacrs386833723
Varsomers386833723
Maprs386833723
PheGenIrs386833723
hapmaprs386833723
1000 genomesrs386833723
hgdprs386833723
ensemblrs386833723
gopubmedrs386833723
geneviewrs386833723
scholarrs386833723
googlers386833723
pharmgkbrs386833723
gwascentralrs386833723
openSNPrs386833723
23andMers386833723
23andMe allrs386833723
SNP Nexus

SNPshotrs386833723
SNPdbers386833723
MSV3drs386833723
GWAS Ctlgrs386833723
Max Magnitude0
ClinVar
Risk rs386833723(A,C;A,C)
Alt rs386833723(A,C;A,C)
Reference rs386833723(G;G)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis not specified
Variation info
Gene NPIPB8 CLN3
CLNDBN Juvenile neuronal ceroid lipofuscinosis not specified
Reversed 1
HGVS NC_000016.9:g.28497960C>G; NC_000016.9:g.28497960C>T
CLNSRC ClinVar
CLNACC RCV000049685.1, RCV000187031.1,


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