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

rs386833700

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833700(A;A)
Make rs386833700(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28491502
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833700
ebirs386833700
HLIrs386833700
Exacrs386833700
Varsomers386833700
Maprs386833700
PheGenIrs386833700
hapmaprs386833700
1000 genomesrs386833700
hgdprs386833700
ensemblrs386833700
gopubmedrs386833700
geneviewrs386833700
scholarrs386833700
googlers386833700
pharmgkbrs386833700
gwascentralrs386833700
openSNPrs386833700
23andMers386833700
23andMe allrs386833700
SNP Nexus

SNPshotrs386833700
SNPdbers386833700
MSV3drs386833700
GWAS Ctlgrs386833700
Max Magnitude0
ClinVar
Risk rs386833700(A;A)
Alt rs386833700(A;A)
Reference rs386833700(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.28502823C>T
CLNSRC ClinVar
CLNACC RCV000049661.1,


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