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rs119455953

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119455953(C;C)
Make rs119455953(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position6616057
GeneTPP1
is asnp
is mentioned by
dbSNPrs119455953
ebirs119455953
HLIrs119455953
Exacrs119455953
Varsomers119455953
Maprs119455953
PheGenIrs119455953
hapmaprs119455953
1000 genomesrs119455953
hgdprs119455953
ensemblrs119455953
gopubmedrs119455953
geneviewrs119455953
scholarrs119455953
googlers119455953
pharmgkbrs119455953
gwascentralrs119455953
openSNPrs119455953
23andMers119455953
23andMe allrs119455953
SNP Nexus

SNPshotrs119455953
SNPdbers119455953
MSV3drs119455953
GWAS Ctlgrs119455953
Max Magnitude0
OMIM607998
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119455953(C;C)
Alt rs119455953(C;C)
Reference rs119455953(T;T)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 2 not provided
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2 not provided
Reversed 1
HGVS NC_000011.9:g.6637288A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002760.5, RCV000189780.1,


[PMID 9295267] Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.


[PMID 10330339OA-icon.png] Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.