rs80358254
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80358254(G;T) |
| Make rs80358254(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 23538609 |
| Gene | NPC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358254 |
| dbSNP (classic) | rs80358254 |
| ClinGen | rs80358254 |
| ebi | rs80358254 |
| HLI | rs80358254 |
| Exac | rs80358254 |
| Gnomad | rs80358254 |
| Varsome | rs80358254 |
| LitVar | rs80358254 |
| Map | rs80358254 |
| PheGenI | rs80358254 |
| Biobank | rs80358254 |
| 1000 genomes | rs80358254 |
| hgdp | rs80358254 |
| ensembl | rs80358254 |
| geneview | rs80358254 |
| scholar | rs80358254 |
| rs80358254 | |
| pharmgkb | rs80358254 |
| gwascentral | rs80358254 |
| openSNP | rs80358254 |
| 23andMe | rs80358254 |
| SNPshot | rs80358254 |
| SNPdbe | rs80358254 |
| MSV3d | rs80358254 |
| GWAS Ctlg | rs80358254 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80358254(A;A) rs80358254(C;C) rs80358254(T;T) |
| Alt | rs80358254(A;A) rs80358254(C;C) rs80358254(T;T) |
| Reference | Rs80358254(G;G) |
| Significance | Other |
| Disease | Niemann-Pick disease Niemann-Pick disease type C1 not provided |
| Variation | info |
| Gene | NPC1 |
| CLNDBN | Niemann-Pick disease, type D Niemann-Pick disease type C1 not provided |
| Reversed | 1 |
| HGVS | NC_000018.9:g.21118573C>A; NC_000018.9:g.21118573C>G; NC_000018.9:g.21118573C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003094.2, RCV000020230.3, RCV000003103.8, RCV000489250.1, RCV000020229.4, RCV000413372.1, |
[PMID 9245994
] Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C.
[PMID 9634529] The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
[PMID 4795418] A hereditary disorder with dementia, spastic dysarthria, vertical eye movement paresis, gait disturbance, splenomegaly, and abnormal copper metabolism.
[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.
[PMID 15596783] Heterozygous Niemann-Pick disease type C presenting with tremor.
