PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Prion Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1178466848
rs1178466848
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0162534
Disease:
Prion Diseases 		0.010 GeneticVariation BEFREE So, the histopathological and biochemical profile associated with the V189I mutation was indistinguishable from the MM1/MV1 subtype of sporadic CJD.Our findings support a pathogenic role for the V189I PRNP variant, confirm the heterogeneity of the clinical phenotypes associated to PRNP mutations and highlight the importance of PrP<sup>Sc</sup> detection assays as diagnostic tools to unveil prion diseases presenting with atypical phenotypes. 30606247 2019