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rs386833624

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 7 Neuronal ceroid lipofuscinosis, type 1 (predicted)
(-;ATCA) 3 unaffected carrier of one neuronal ceroid lipofuscinosis mutation
(ATCA;ATCA) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position40073532
GenePPT1
is asnp
is mentioned by
dbSNPrs386833624
ebirs386833624
HLIrs386833624
Exacrs386833624
Varsomers386833624
Maprs386833624
PheGenIrs386833624
hapmaprs386833624
1000 genomesrs386833624
hgdprs386833624
ensemblrs386833624
gopubmedrs386833624
geneviewrs386833624
scholarrs386833624
googlers386833624
pharmgkbrs386833624
gwascentralrs386833624
openSNPrs386833624
23andMers386833624
23andMe allrs386833624
SNP Nexus

SNPshotrs386833624
SNPdbers386833624
MSV3drs386833624
GWAS Ctlgrs386833624
Max Magnitude7

aka c.*526_*529delATCA

The minor (deletion) allele is reported as pathogenic (when inherited recessively) by one source in ClinVar as pathogenic for a neuronal ceroid lipofuscinosis, among the most common types of neurodegenerative disorders seen in children.


ClinVar
Risk rs386833624(;)
Alt rs386833624(;)
Reference rs386833624(ATCA;ATCA)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40539204_40539207delTGAT
CLNSRC ClinVar
CLNACC RCV000049552.1,


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