Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation BEFREE Three clinical phenotypes were seen: rapidly progressive Creutzfeldt-Jakob disease (CJD), which included 100% of E200K cases, 70% of M232R, and 21% of P102L; slowly progressive CJD, which included 100% of V180I and 30% of M232R; and Gerstmann-Sträussler-Scheinker disease, which included 100% of P105L and 79% of P102L. 23555862

2013
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation BEFREE Based on these findings, together with the results in previous CJD cases with M232R, we noted the possibility that the presence of type 2 PrP(sc) may be associated with both morphological features of PrP deposition and slow disease progression in this genetic prion disease. 21983261

2012
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation UNIPROT Conformational diversity in prion protein variants influences intermolecular beta-sheet formation. 19927125

2010
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation BEFREE Patients with genetic Creutzfeldt-Jakob disease in which arginine is substituted for methionine at codon 232 (M232R) of the prion protein gene (CJD232) have been described in Japan, and a recent study has revealed the presence of two clinical phenotypes: a rapidly progressive type (rapid-type) and a slowly progressive type (slow-type). 19422537

2009
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation BEFREE Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. 17965961

2007
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation BEFREE Susceptibility varied considerably depending on prions inoculated: highly susceptible to MM1 and MV1 types of sporadic Creutzfeldt-Jakob disease (CJD), developing disease within approximately 150 days, familial CJD with M232R mutation, and dura graft-associated CJD (dCJD) without amyloid plaque; less susceptible to MM2-type sporadic CJD and variant CJD, with some mice lacking any sign of transmission; and totally resistant to VV2 type sporadic CJD and dCJD with amyloid plaque. 14633630

2003
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation BEFREE Although the M232R mutation has been reported to cause Creutzfeldt-Jakob disease, findings in our patient suggest that not all patients presenting progressive dementia with M232R mutation have Creutzfeldt-Jakob disease. 12451207

2002
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation UNIPROT Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. 10790216

2000
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation UNIPROT Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. 8909447

1996
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation BEFREE We describe the clinical, neuropathological, immunohistochemical and transmission findings in three patients with Creutzfeldt-Jakob disease (CJD) with a substitution from methionine to arginine at codon 232 (M232R) in the prion protein (PrP) gene. 8922054

1996
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation UNIPROT Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene. 7906019

1994
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation UNIPROT Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease. 7913755

1994
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation UNIPROT A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 7902693

1993
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation UNIPROT Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. 8461023

1993
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation UNIPROT Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. 1439789

1992
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation UNIPROT New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred. 1671440

1991
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation UNIPROT Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. 1975028

1990