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rs119455954

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119455954(A;A)
Make rs119455954(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position6616056
GeneTPP1
is asnp
is mentioned by
dbSNPrs119455954
ebirs119455954
HLIrs119455954
Exacrs119455954
Varsomers119455954
Maprs119455954
PheGenIrs119455954
hapmaprs119455954
1000 genomesrs119455954
hgdprs119455954
ensemblrs119455954
gopubmedrs119455954
geneviewrs119455954
scholarrs119455954
googlers119455954
pharmgkbrs119455954
gwascentralrs119455954
openSNPrs119455954
23andMers119455954
23andMe allrs119455954
SNP Nexus

SNPshotrs119455954
SNPdbers119455954
MSV3drs119455954
GWAS Ctlgrs119455954
Max Magnitude0
OMIM607998
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119455954(A;A)
Alt rs119455954(A;A)
Reference rs119455954(G;G)
Significance Other
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.6637287C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002761.8, RCV000189781.2,


[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.