rs74315403(A;G)
From SNPedia
PrP D178N pathogenic mutation - leads to CJD or FFI |
Is a | genotype |
of | rs74315403 |
Gene | PRNP |
Chromosome | 20 |
Position | 4,699,752 |
mentioned | by |
Magnitude | 6.5 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.5 | PrP D178N pathogenic mutation - leads to CJD or FFI |
(G;G) | 0 | PrP codon 178 (D) - non pathogenic variant |
This SNP creates a D178N mutation within the Prion Protein, which leads to inherited Creutzfeldt-Jakob disease or Fatal Familial Insomnia.