Have questions? Visit https://www.reddit.com/r/SNPedia

rs119455957

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119455957(G;T)
Make rs119455957(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position6616696
GeneTPP1
is asnp
is mentioned by
dbSNPrs119455957
ebirs119455957
HLIrs119455957
Exacrs119455957
Varsomers119455957
Maprs119455957
PheGenIrs119455957
hapmaprs119455957
1000 genomesrs119455957
hgdprs119455957
ensemblrs119455957
gopubmedrs119455957
geneviewrs119455957
scholarrs119455957
googlers119455957
pharmgkbrs119455957
gwascentralrs119455957
openSNPrs119455957
23andMers119455957
23andMe allrs119455957
SNP Nexus

SNPshotrs119455957
SNPdbers119455957
MSV3drs119455957
GWAS Ctlgrs119455957
Max Magnitude0
OMIM607998
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119455957(T;T)
Alt rs119455957(T;T)
Reference rs119455957(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6637927C>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002766.5,


[PMID 11339651] Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.


[PMID 12414822OA-icon.png] Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.