Variant: rs74315411

present in Gene: PRNP present in Chromosome: 20 Position on Chromosome: 4699767 Alleles of this Variant: A/G

rs74315411 in PRNP gene and SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES PMID 12214108 2000 The Thr183Ala Mutation, Not the Loss of the First Glycosylation Site, Alters the Physical Properties of the Prion Protein.

PMID 9266722 1997 Familial spongiform encephalopathy associated with a novel prion protein gene mutation.