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

rs386833711

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833711(C;C)
Make rs386833711(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28489285
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833711
ebirs386833711
HLIrs386833711
Exacrs386833711
Varsomers386833711
Maprs386833711
PheGenIrs386833711
hapmaprs386833711
1000 genomesrs386833711
hgdprs386833711
ensemblrs386833711
gopubmedrs386833711
geneviewrs386833711
scholarrs386833711
googlers386833711
pharmgkbrs386833711
gwascentralrs386833711
openSNPrs386833711
23andMers386833711
23andMe allrs386833711
SNP Nexus

SNPshotrs386833711
SNPdbers386833711
MSV3drs386833711
GWAS Ctlgrs386833711
Max Magnitude0
ClinVar
Risk rs386833711(C;C)
Alt rs386833711(C;C)
Reference rs386833711(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.28500606C>G
CLNSRC ClinVar
CLNACC RCV000049672.1,


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