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rs386833699

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833699(C;C)
Make rs386833699(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28482105
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833699
ebirs386833699
HLIrs386833699
Exacrs386833699
Varsomers386833699
Maprs386833699
PheGenIrs386833699
hapmaprs386833699
1000 genomesrs386833699
hgdprs386833699
ensemblrs386833699
gopubmedrs386833699
geneviewrs386833699
scholarrs386833699
googlers386833699
pharmgkbrs386833699
gwascentralrs386833699
openSNPrs386833699
23andMers386833699
23andMe allrs386833699
SNP Nexus

SNPshotrs386833699
SNPdbers386833699
MSV3drs386833699
GWAS Ctlgrs386833699
Max Magnitude0
ClinVar
Risk rs386833699(C;C)
Alt rs386833699(C;C)
Reference rs386833699(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.28493426C>G
CLNSRC ClinVar
CLNACC RCV000049660.1,


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