rs80358259
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs80358259(C;C) |
| Make rs80358259(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 23536736 |
| Gene | NPC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358259 |
| dbSNP (classic) | rs80358259 |
| ClinGen | rs80358259 |
| ebi | rs80358259 |
| HLI | rs80358259 |
| Exac | rs80358259 |
| Gnomad | rs80358259 |
| Varsome | rs80358259 |
| LitVar | rs80358259 |
| Map | rs80358259 |
| PheGenI | rs80358259 |
| Biobank | rs80358259 |
| 1000 genomes | rs80358259 |
| hgdp | rs80358259 |
| ensembl | rs80358259 |
| geneview | rs80358259 |
| scholar | rs80358259 |
| rs80358259 | |
| pharmgkb | rs80358259 |
| gwascentral | rs80358259 |
| openSNP | rs80358259 |
| 23andMe | rs80358259 |
| SNPshot | rs80358259 |
| SNPdbe | rs80358259 |
| MSV3d | rs80358259 |
| GWAS Ctlg | rs80358259 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80358259(C;C) |
| Alt | rs80358259(C;C) |
| Reference | Rs80358259(T;T) |
| Significance | Pathogenic |
| Disease | Niemann-Pick disease type C1 not provided |
| Variation | info |
| Gene | NPC1 |
| CLNDBN | Niemann-Pick disease type C1 not provided |
| Reversed | 1 |
| HGVS | NC_000018.9:g.21116700A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003101.8, RCV000254672.1, |
[PMID 10521297
] Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.
[PMID 16098014] Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
[PMID 18216017] Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.
