rs119455953
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs119455953(C;C) |
| Make rs119455953(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 6616057 |
| Gene | TPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119455953 |
| dbSNP (classic) | rs119455953 |
| ClinGen | rs119455953 |
| ebi | rs119455953 |
| HLI | rs119455953 |
| Exac | rs119455953 |
| Gnomad | rs119455953 |
| Varsome | rs119455953 |
| LitVar | rs119455953 |
| Map | rs119455953 |
| PheGenI | rs119455953 |
| Biobank | rs119455953 |
| 1000 genomes | rs119455953 |
| hgdp | rs119455953 |
| ensembl | rs119455953 |
| geneview | rs119455953 |
| scholar | rs119455953 |
| rs119455953 | |
| pharmgkb | rs119455953 |
| gwascentral | rs119455953 |
| openSNP | rs119455953 |
| 23andMe | rs119455953 |
| SNPshot | rs119455953 |
| SNPdbe | rs119455953 |
| MSV3d | rs119455953 |
| GWAS Ctlg | rs119455953 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs119455953(C;C) |
| Alt | rs119455953(C;C) |
| Reference | Rs119455953(T;T) |
| Significance | Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 2 |
| Variation | info |
| Gene | TPP1 |
| CLNDBN | Ceroid lipofuscinosis neuronal 2 |
| Reversed | 1 |
| HGVS | NC_000011.9:g.6637288A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000002760.5, |
[PMID 9295267] Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
[PMID 10330339
] Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
