Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833632(-;-)
Make rs386833632(-;TGT)
Make rs386833632(TGT;TGT)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092499
GenePPT1
is asnp
is mentioned by
dbSNPrs386833632
ebirs386833632
HLIrs386833632
Exacrs386833632
Varsomers386833632
Maprs386833632
PheGenIrs386833632
hapmaprs386833632
1000 genomesrs386833632
hgdprs386833632
ensemblrs386833632
gopubmedrs386833632
geneviewrs386833632
scholarrs386833632
googlers386833632
pharmgkbrs386833632
gwascentralrs386833632
openSNPrs386833632
23andMers386833632
23andMe allrs386833632
SNP Nexus

SNPshotrs386833632
SNPdbers386833632
MSV3drs386833632
GWAS Ctlgrs386833632
Max Magnitude0
ClinVar
Risk rs386833632(TTG;TTG)
Alt rs386833632(TTG;TTG)
Reference rs386833632(;)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40558169_40558171dupACA
CLNSRC ClinVar
CLNACC RCV000049591.1,


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