rs74315402
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 8 | Gerstmann–Straussler–Scheinker syndrome |
| Make rs74315402(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 4699570 |
| Gene | PRNP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315402 |
| dbSNP (classic) | rs74315402 |
| ClinGen | rs74315402 |
| ebi | rs74315402 |
| HLI | rs74315402 |
| Exac | rs74315402 |
| Gnomad | rs74315402 |
| Varsome | rs74315402 |
| LitVar | rs74315402 |
| Map | rs74315402 |
| PheGenI | rs74315402 |
| Biobank | rs74315402 |
| 1000 genomes | rs74315402 |
| hgdp | rs74315402 |
| ensembl | rs74315402 |
| geneview | rs74315402 |
| scholar | rs74315402 |
| rs74315402 | |
| pharmgkb | rs74315402 |
| gwascentral | rs74315402 |
| openSNP | rs74315402 |
| 23andMe | rs74315402 |
| SNPshot | rs74315402 |
| SNPdbe | rs74315402 |
| MSV3d | rs74315402 |
| GWAS Ctlg | rs74315402 |
| Max Magnitude | 8 |
| ClinVar | |
|---|---|
| Risk | rs74315402(T;T) |
| Alt | rs74315402(T;T) |
| Reference | Rs74315402(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.4680216C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014330.23, RCV000020243.1, |
[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 7501157] Prion disease (PrP-A117V) presenting with ataxia instead of dementia.
[PMID 9452375] A transmembrane form of the prion protein in neurodegenerative disease.
[PMID 10506086] Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene.
