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rs386833638

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAAGTAACAACAGTGTG;CAAGTAACAACAGTGTG) 0 common in clinvar
Make rs386833638(CAAGTAACAACAGTGTG;TT)
Make rs386833638(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092120
GenePPT1
is asnp
is mentioned by
dbSNPrs386833638
ClinGenrs386833638
ebirs386833638
HLIrs386833638
Exacrs386833638
Varsomers386833638
Maprs386833638
PheGenIrs386833638
hapmaprs386833638
1000 genomesrs386833638
hgdprs386833638
ensemblrs386833638
gopubmedrs386833638
geneviewrs386833638
scholarrs386833638
googlers386833638
pharmgkbrs386833638
gwascentralrs386833638
openSNPrs386833638
23andMers386833638
23andMe allrs386833638
SNP Nexus

SNPshotrs386833638
SNPdbers386833638
MSV3drs386833638
GWAS Ctlgrs386833638
Max Magnitude0
ClinVar
Risk rs386833638(TT;TT)
Alt rs386833638(TT;TT)
Reference Rs386833638(CAAGTAACAACAGTGTG;CAAGTAACAACAGTGTG)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40557792_40557808del17insAA
CLNSRC ClinVar
CLNACC RCV000049597.1,


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