Variant: rs74315403 

    present in Gene: PRNP
    present in Chromosome: 20
    Position on Chromosome: 4699752
    Alleles of this Variant: G/A

rs74315403 in PRNP gene and Creutzfeldt-Jakob disease PMID 1975028 1990 Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia.

PMID 1671440 1991 New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.

PMID 19927125 2010 Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.

PMID 8461023 1993 Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.

PMID 7902693 1993 A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.

PMID 7913755 1994 Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.

PMID 7906019 1994 Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 10790216 2000 Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.

PMID 1439789 1992 Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

PMID 8909447 1996 Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.

rs74315403 in PRNP gene and Fatal Familial Insomnia PMID 1439789 1992 Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

PMID 1347910 1992 Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.

PMID 19927125 2010 Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.