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rs119455958

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119455958(A;G)
Make rs119455958(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position6616690
GeneTPP1
is asnp
is mentioned by
dbSNPrs119455958
ebirs119455958
HLIrs119455958
Exacrs119455958
Varsomers119455958
Maprs119455958
PheGenIrs119455958
hapmaprs119455958
1000 genomesrs119455958
hgdprs119455958
ensemblrs119455958
gopubmedrs119455958
geneviewrs119455958
scholarrs119455958
googlers119455958
pharmgkbrs119455958
gwascentralrs119455958
openSNPrs119455958
23andMers119455958
23andMe allrs119455958
SNP Nexus

SNPshotrs119455958
SNPdbers119455958
MSV3drs119455958
GWAS Ctlgrs119455958
Max Magnitude0
OMIM607998
Desc
Variant0008
Relatedalso
ClinVar
Risk rs119455958(G;G)
Alt rs119455958(G;G)
Reference rs119455958(A;A)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6637921T>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002767.4,


[PMID 12376936] Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.