rs80358258
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80358258(A;A) |
| Make rs80358258(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 23536758 |
| Gene | NPC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358258 |
| dbSNP (classic) | rs80358258 |
| ClinGen | rs80358258 |
| ebi | rs80358258 |
| HLI | rs80358258 |
| Exac | rs80358258 |
| Gnomad | rs80358258 |
| Varsome | rs80358258 |
| LitVar | rs80358258 |
| Map | rs80358258 |
| PheGenI | rs80358258 |
| Biobank | rs80358258 |
| 1000 genomes | rs80358258 |
| hgdp | rs80358258 |
| ensembl | rs80358258 |
| geneview | rs80358258 |
| scholar | rs80358258 |
| rs80358258 | |
| pharmgkb | rs80358258 |
| gwascentral | rs80358258 |
| openSNP | rs80358258 |
| 23andMe | rs80358258 |
| SNPshot | rs80358258 |
| SNPdbe | rs80358258 |
| MSV3d | rs80358258 |
| GWAS Ctlg | rs80358258 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80358258(A;A) |
| Alt | rs80358258(A;A) |
| Reference | Rs80358258(G;G) |
| Significance | Pathogenic |
| Disease | Niemann-Pick disease type C1 |
| Variation | info |
| Gene | NPC1 |
| CLNDBN | Niemann-Pick disease type C1 |
| Reversed | 1 |
| HGVS | NC_000018.9:g.21116722C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000020231.2, |
[PMID 11333381
] Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
