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rs386833644

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833644(-;-)
Make rs386833644(-;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40091364
GenePPT1
is asnp
is mentioned by
dbSNPrs386833644
ebirs386833644
HLIrs386833644
Exacrs386833644
Varsomers386833644
Maprs386833644
PheGenIrs386833644
hapmaprs386833644
1000 genomesrs386833644
hgdprs386833644
ensemblrs386833644
gopubmedrs386833644
geneviewrs386833644
scholarrs386833644
googlers386833644
pharmgkbrs386833644
gwascentralrs386833644
openSNPrs386833644
23andMers386833644
23andMe allrs386833644
SNP Nexus

SNPshotrs386833644
SNPdbers386833644
MSV3drs386833644
GWAS Ctlgrs386833644
Max Magnitude0
ClinVar
Risk rs386833644(;)
Alt rs386833644(;)
Reference rs386833644(T;T)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40557036delA
CLNSRC ClinVar
CLNACC RCV000049603.1,


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