rs74315401
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 8 | Gerstmann–Straussler–Scheinker syndrome |
| Make rs74315401(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 4699525 |
| Gene | PRNP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315401 |
| dbSNP (classic) | rs74315401 |
| ClinGen | rs74315401 |
| ebi | rs74315401 |
| HLI | rs74315401 |
| Exac | rs74315401 |
| Gnomad | rs74315401 |
| Varsome | rs74315401 |
| LitVar | rs74315401 |
| Map | rs74315401 |
| PheGenI | rs74315401 |
| Biobank | rs74315401 |
| 1000 genomes | rs74315401 |
| hgdp | rs74315401 |
| ensembl | rs74315401 |
| geneview | rs74315401 |
| scholar | rs74315401 |
| rs74315401 | |
| pharmgkb | rs74315401 |
| gwascentral | rs74315401 |
| openSNP | rs74315401 |
| 23andMe | rs74315401 |
| SNPshot | rs74315401 |
| SNPdbe | rs74315401 |
| MSV3d | rs74315401 |
| GWAS Ctlg | rs74315401 |
| Max Magnitude | 8 |
| ClinVar | |
|---|---|
| Risk | rs74315401(T;T) |
| Alt | rs74315401(T;T) |
| Reference | Rs74315401(C;C) |
| 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.4680171C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014329.24, RCV000020239.1, |
[PMID 2180366] Creutzfeldt-Jakob disease patients with congophilic kuru plaques have the missense variant prion protein common to Gerstmann-Straussler syndrome.
[PMID 2190844] Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Straussler-Scheinker syndrome.
[PMID 2572450] Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker's syndrome.
[PMID 2783132] Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Straussler syndrome.
[PMID 7902971] An Israeli family with Gerstmann-Straussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene.
[PMID 11967261] Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheinker disease P102L.
