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rs386833637

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
Make rs386833637(-;-)
Make rs386833637(-;CTT)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092150
GenePPT1
is asnp
is mentioned by
dbSNPrs386833637
ebirs386833637
HLIrs386833637
Exacrs386833637
Varsomers386833637
Maprs386833637
PheGenIrs386833637
hapmaprs386833637
1000 genomesrs386833637
hgdprs386833637
ensemblrs386833637
gopubmedrs386833637
geneviewrs386833637
scholarrs386833637
googlers386833637
pharmgkbrs386833637
gwascentralrs386833637
openSNPrs386833637
23andMers386833637
23andMe allrs386833637
SNP Nexus

SNPshotrs386833637
SNPdbers386833637
MSV3drs386833637
GWAS Ctlgrs386833637
Max Magnitude0
ClinVar
Risk rs386833637(;)
Alt rs386833637(;)
Reference rs386833637(CTT;CTT)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40557822_40557824delAAG
CLNSRC ClinVar
CLNACC RCV000049596.1,


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