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rs386833728

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833728(A;A)
Make rs386833728(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486577
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833728
ebirs386833728
HLIrs386833728
Exacrs386833728
Varsomers386833728
Maprs386833728
PheGenIrs386833728
hapmaprs386833728
1000 genomesrs386833728
hgdprs386833728
ensemblrs386833728
gopubmedrs386833728
geneviewrs386833728
scholarrs386833728
googlers386833728
pharmgkbrs386833728
gwascentralrs386833728
openSNPrs386833728
23andMers386833728
23andMe allrs386833728
SNP Nexus

SNPshotrs386833728
SNPdbers386833728
MSV3drs386833728
GWAS Ctlgrs386833728
Max Magnitude0
ClinVar
Risk rs386833728(A,C;A,C)
Alt rs386833728(A,C;A,C)
Reference rs386833728(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.28497898C>G; NC_000016.9:g.28497898C>T
CLNSRC ClinVar
CLNACC RCV000049691.1, RCV000049690.1,


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