Variant: rs74315401 

    present in Gene: PRNP
    present in Chromosome: 20
    Position on Chromosome: 4699525
    Alleles of this Variant: C/T

rs74315401 in PRNP gene and Gerstmann-Straussler-Scheinker Disease PMID 1439789 1992 Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

PMID 1363810 1992 Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.

PMID 11709001 2001 A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.

PMID 10581485 1999 Novel PRNP sequence variant associated with familial encephalopathy.

PMID 2564168 1989 Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.

PMID 7902972 1993 A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease.

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

PMID 7699395 1994 A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.

PMID 9786248 1998 Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.

PMID 8797472 1996 Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation).

PMID 7783876 1995 Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.