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rs386833729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs386833729(-;-)
Make rs386833729(-;AG)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486465
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833729
ebirs386833729
HLIrs386833729
Exacrs386833729
Varsomers386833729
Maprs386833729
PheGenIrs386833729
hapmaprs386833729
1000 genomesrs386833729
hgdprs386833729
ensemblrs386833729
gopubmedrs386833729
geneviewrs386833729
scholarrs386833729
googlers386833729
pharmgkbrs386833729
gwascentralrs386833729
openSNPrs386833729
23andMers386833729
23andMe allrs386833729
SNP Nexus

SNPshotrs386833729
SNPdbers386833729
MSV3drs386833729
GWAS Ctlgrs386833729
Max Magnitude0
ClinVar
Risk rs386833729(;)
Alt rs386833729(;)
Reference rs386833729(AG;AG)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene CLN3 NPIPB8
CLNDBN Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28497786_28497787delCT
CLNSRC ClinVar
CLNACC RCV000049692.1,


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