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rs119455956

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Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119455956(A;A)
Make rs119455956(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position6615256
GeneTPP1
is asnp
is mentioned by
dbSNPrs119455956
ebirs119455956
HLIrs119455956
Exacrs119455956
Varsomers119455956
Maprs119455956
PheGenIrs119455956
hapmaprs119455956
1000 genomesrs119455956
hgdprs119455956
ensemblrs119455956
gopubmedrs119455956
geneviewrs119455956
scholarrs119455956
googlers119455956
pharmgkbrs119455956
gwascentralrs119455956
openSNPrs119455956
23andMers119455956
23andMe allrs119455956
SNP Nexus

SNPshotrs119455956
SNPdbers119455956
MSV3drs119455956
GWAS Ctlgrs119455956
Max Magnitude0
OMIM607998
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119455956(A;A)
Alt rs119455956(A;A)
Reference rs119455956(G;G)
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.6636487C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002764.4, RCV000189790.2,


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