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rs386833629

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833629(G;G)
Make rs386833629(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092522
GenePPT1
is asnp
is mentioned by
dbSNPrs386833629
ebirs386833629
HLIrs386833629
Exacrs386833629
Varsomers386833629
Maprs386833629
PheGenIrs386833629
hapmaprs386833629
1000 genomesrs386833629
hgdprs386833629
ensemblrs386833629
gopubmedrs386833629
geneviewrs386833629
scholarrs386833629
googlers386833629
pharmgkbrs386833629
gwascentralrs386833629
openSNPrs386833629
23andMers386833629
23andMe allrs386833629
SNP Nexus

SNPshotrs386833629
SNPdbers386833629
MSV3drs386833629
GWAS Ctlgrs386833629
Max Magnitude0
ClinVar
Risk rs386833629(G;G)
Alt rs386833629(G;G)
Reference rs386833629(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.40558194A>C
CLNSRC ClinVar
CLNACC RCV000049588.1,


[PMID 19302939] Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.


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