rs16990018
From SNPedia
| Codes for Prion Protein codon 171 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | PrP Codon 171 Asn - Non-pathogenic variant |
| (A;G) | 1 | PrP 171 N/S Heterozygote - Unknown significance |
| (G;G) | 2 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 4699732 |
| Gene | PRNP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs16990018 |
| dbSNP (classic) | rs16990018 |
| ClinGen | rs16990018 |
| ebi | rs16990018 |
| HLI | rs16990018 |
| Exac | rs16990018 |
| Gnomad | rs16990018 |
| Varsome | rs16990018 |
| LitVar | rs16990018 |
| Map | rs16990018 |
| PheGenI | rs16990018 |
| Biobank | rs16990018 |
| 1000 genomes | rs16990018 |
| hgdp | rs16990018 |
| ensembl | rs16990018 |
| geneview | rs16990018 |
| scholar | rs16990018 |
| rs16990018 | |
| pharmgkb | rs16990018 |
| gwascentral | rs16990018 |
| openSNP | rs16990018 |
| 23andMe | rs16990018 |
| SNPshot | rs16990018 |
| SNPdbe | rs16990018 |
| MSV3d | rs16990018 |
| GWAS Ctlg | rs16990018 |
| GMAF | 0.01882 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs16990018(G;G) |
| Alt | Rs16990018(G;G) |
| Reference | Rs16990018(A;A) |
| Significance | Non-pathogenic |
| Disease | Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases |
| Variation | info |
| Gene | PRNP |
| CLNDBN | Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases |
| Reversed | 0 |
| HGVS | NC_000020.10:g.4680378A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014348.13, RCV000020247.2, |
The importance of this codon has been reclassified based on further research. Normally Asn, the Asn171Ser variant was identified in a patient with Prion disease, [PMID 9384372], and further research indicated that it may be associated with temporal lobe epilepsy [PMID 15304595].
However, more recent research [PMID 20583301] has indicated that the N171S variant is present in healthy members of numerous populations, reaching penetrance of 11% in Biaka Pygmies and 5% in Jamaicans. Thus this polymorphism is considered of unknown significance.
