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

rs386833714

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833714(C;C)
Make rs386833714(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position28487734
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833714
ebirs386833714
HLIrs386833714
Exacrs386833714
Varsomers386833714
Maprs386833714
PheGenIrs386833714
hapmaprs386833714
1000 genomesrs386833714
hgdprs386833714
ensemblrs386833714
gopubmedrs386833714
geneviewrs386833714
scholarrs386833714
googlers386833714
pharmgkbrs386833714
gwascentralrs386833714
openSNPrs386833714
23andMers386833714
23andMe allrs386833714
SNP Nexus

SNPshotrs386833714
SNPdbers386833714
MSV3drs386833714
GWAS Ctlgrs386833714
Max Magnitude0
ClinVar
Risk rs386833714(C;C)
Alt rs386833714(C;C)
Reference rs386833714(T;T)
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.28499055A>G
CLNSRC ClinVar
CLNACC RCV000049675.1,


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