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

rs386833696

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833696(-;-)
Make rs386833696(-;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position28482113
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833696
ebirs386833696
HLIrs386833696
Exacrs386833696
Varsomers386833696
Maprs386833696
PheGenIrs386833696
hapmaprs386833696
1000 genomesrs386833696
hgdprs386833696
ensemblrs386833696
gopubmedrs386833696
geneviewrs386833696
scholarrs386833696
googlers386833696
pharmgkbrs386833696
gwascentralrs386833696
openSNPrs386833696
23andMers386833696
23andMe allrs386833696
SNP Nexus

SNPshotrs386833696
SNPdbers386833696
MSV3drs386833696
GWAS Ctlgrs386833696
Max Magnitude0
ClinVar
Risk rs386833696(;)
Alt rs386833696(;)
Reference rs386833696(C;C)
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.28493434delG
CLNSRC ClinVar
CLNACC RCV000049657.1,


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