Variant: rs74315402 

    present in Gene: PRNP
    present in Chromosome: 20
    Position on Chromosome: 4699570
    Alleles of this Variant: C/T

rs74315402 in PRNP gene and Movement Disorders PMID 9669700 1998 The prion diseases.

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 20216075 2010 The genetics of prion diseases.

PMID 15883322 2005 High incidence of genetic human transmissible spongiform encephalopathies in Italy.

PMID 8250529 1993 A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis.

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 16831973 2006 Childhood onset in familial prion disease with a novel mutation in the PRNP gene.

PMID 21911696 2011 Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene.

PMID 28987186 2017 Prion diseases.

PMID 16769939 2006 Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu).

PMID 16391566 2006 Prion disease genetics.

PMID 15824374 2005 PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia.

PMID 28778873 2018 Genetic PrP Prion Diseases.

PMID 10408557 1999 An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity.

PMID 23518043 2013 Genetics of prion diseases.

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

PMID 12451207 2002 A patient with dementia with Lewy bodies and codon 232 mutation of PRNP.

PMID 10541874 1999 Variant Gerstmann-Sträussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles.

PMID 10963679 2000 Genetic influence on the structural variations of the abnormal prion protein.

PMID 12420099 2002 Mutations of the prion protein gene phenotypic spectrum.