rs74315405
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 9 | Gerstmann–Straussler–Scheinker syndrome |
| (T;T) | 0 | common in clinvar |
| Make rs74315405(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 4699813 |
| Gene | PRNP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315405 |
| dbSNP (classic) | rs74315405 |
| ClinGen | rs74315405 |
| ebi | rs74315405 |
| HLI | rs74315405 |
| Exac | rs74315405 |
| Gnomad | rs74315405 |
| Varsome | rs74315405 |
| LitVar | rs74315405 |
| Map | rs74315405 |
| PheGenI | rs74315405 |
| Biobank | rs74315405 |
| 1000 genomes | rs74315405 |
| hgdp | rs74315405 |
| ensembl | rs74315405 |
| geneview | rs74315405 |
| scholar | rs74315405 |
| rs74315405 | |
| pharmgkb | rs74315405 |
| gwascentral | rs74315405 |
| openSNP | rs74315405 |
| 23andMe | rs74315405 |
| SNPshot | rs74315405 |
| SNPdbe | rs74315405 |
| MSV3d | rs74315405 |
| GWAS Ctlg | rs74315405 |
| Max Magnitude | 9 |
c.593T>C (p.Phe198Ser)
23andMe calls this i5004356
| ClinVar | |
|---|---|
| Risk | rs74315405(C;C) |
| Alt | rs74315405(C;C) |
| Reference | Rs74315405(T;T) |
| Significance | Pathogenic |
| Disease | Gerstmann-Straussler-Scheinker syndrome Genetic prion diseases |
| Variation | info |
| Gene | PRNP |
| CLNDBN | Gerstmann-Straussler-Scheinker syndrome Genetic prion diseases |
| Reversed | 0 |
| HGVS | NC_000020.10:g.4680459T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014340.24, RCV000020252.1, |
[PMID 1357663
] Prion protein preamyloid and amyloid deposits in Gerstmann-Straussler-Scheinker disease, Indiana kindred.
[PMID 1363809] Linkage of the Indiana kindred of Gerstmann-Straussler-Scheinker disease to the prion protein gene.
[PMID 1363810] Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles.
[PMID 2812321] Gerstmann-Straussler-Scheinker disease. I. Extending the clinical spectrum.
[PMID 7954833] Amyloid fibrils in Gerstmann-Straussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele.
[PMID 12372829] Disease-associated F198S mutation increases the propensity of the recombinant prion protein for conformational conversion to scrapie-like form.
