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rs28940573

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28940573(C;T)
Make rs28940573(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position6617046
GeneTPP1
is asnp
is mentioned by
dbSNPrs28940573
ebirs28940573
HLIrs28940573
Exacrs28940573
Varsomers28940573
Maprs28940573
PheGenIrs28940573
hapmaprs28940573
1000 genomesrs28940573
hgdprs28940573
ensemblrs28940573
gopubmedrs28940573
geneviewrs28940573
scholarrs28940573
googlers28940573
pharmgkbrs28940573
gwascentralrs28940573
openSNPrs28940573
23andMers28940573
23andMe allrs28940573
SNP Nexus

SNPshotrs28940573
SNPdbers28940573
MSV3drs28940573
GWAS Ctlgrs28940573
Max Magnitude0
OMIM607998
DescCEROID LIPOFUSCINOSIS, NEURONAL, 2
Variant0006
Relatedalso


ClinVar
Risk rs28940573(T;T)
Alt rs28940573(T;T)
Reference rs28940573(C;C)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6638277G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002765.6,



[PMID 10665500] Prenatal testing for late infantile neuronal ceroid lipofuscinosis.

[PMID 12698559] [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].