rs28933385(A;G)
From SNPedia
| Codes for the Prion Protein E200K pathogenic mutation |
| Is a | genotype |
| of | rs28933385 |
| Gene | PRNP |
| Chromosome | 20 |
| Position | 4,699,818 |
| mentioned | by |
| Magnitude | 4 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 4 | Codes for the Prion Protein E200K pathogenic mutation |
| (G;G) | 0 | Prion protein Codon 200 (E) - Non pathogenic variant |
This SNP produces a heterozygous E200K mutation within the Prion Protein. This mutation has been associated with the development of inherited Prion disease.
