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rs386833633

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Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833633(A;T)
Make rs386833633(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092469
GenePPT1
is asnp
is mentioned by
dbSNPrs386833633
ebirs386833633
HLIrs386833633
Exacrs386833633
Varsomers386833633
Maprs386833633
PheGenIrs386833633
hapmaprs386833633
1000 genomesrs386833633
hgdprs386833633
ensemblrs386833633
gopubmedrs386833633
geneviewrs386833633
scholarrs386833633
googlers386833633
pharmgkbrs386833633
gwascentralrs386833633
openSNPrs386833633
23andMers386833633
23andMe allrs386833633
SNP Nexus

SNPshotrs386833633
SNPdbers386833633
MSV3drs386833633
GWAS Ctlgrs386833633
Max Magnitude0
ClinVar
Risk rs386833633(T;T)
Alt rs386833633(T;T)
Reference rs386833633(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40558141T>A
CLNSRC ClinVar
CLNACC RCV000049592.1,


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