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rs28933385(A;G)

From SNPedia

Codes for the Prion Protein E200K pathogenic mutation
Is agenotype
ofrs28933385
GenePRNP
Chromosome20
Position4,699,818
mentionedby
Magnitude4
ReputeBad
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.