Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833726

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833726(G;T)
Make rs386833726(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28491558
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833726
ebirs386833726
HLIrs386833726
Exacrs386833726
Varsomers386833726
Maprs386833726
PheGenIrs386833726
hapmaprs386833726
1000 genomesrs386833726
hgdprs386833726
ensemblrs386833726
gopubmedrs386833726
geneviewrs386833726
scholarrs386833726
googlers386833726
pharmgkbrs386833726
gwascentralrs386833726
openSNPrs386833726
23andMers386833726
23andMe allrs386833726
SNP Nexus

SNPshotrs386833726
SNPdbers386833726
MSV3drs386833726
GWAS Ctlgrs386833726
Max Magnitude0
ClinVar
Risk rs386833726(A,T;A,T)
Alt rs386833726(A,T;A,T)
Reference rs386833726(G;G)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis not specified
Variation info
Gene CLN3 NPIPB8
CLNDBN Juvenile neuronal ceroid lipofuscinosis not specified
Reversed 1
HGVS NC_000016.9:g.28502879C>A; NC_000016.9:g.28502879C>T
CLNSRC ClinVar
CLNACC RCV000049688.1, RCV000187018.1,


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