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rs386833708

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833708(A;C)
Make rs386833708(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position28491759
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833708
ebirs386833708
HLIrs386833708
Exacrs386833708
Varsomers386833708
Maprs386833708
PheGenIrs386833708
hapmaprs386833708
1000 genomesrs386833708
hgdprs386833708
ensemblrs386833708
gopubmedrs386833708
geneviewrs386833708
scholarrs386833708
googlers386833708
pharmgkbrs386833708
gwascentralrs386833708
openSNPrs386833708
23andMers386833708
23andMe allrs386833708
SNP Nexus

SNPshotrs386833708
SNPdbers386833708
MSV3drs386833708
GWAS Ctlgrs386833708
Max Magnitude0
ClinVar
Risk rs386833708(C,G;C,G)
Alt rs386833708(C,G;C,G)
Reference rs386833708(A;A)
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.28503080T>G
CLNSRC ClinVar
CLNACC RCV000049669.1,


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