Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Arg208His (p.R208H)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Arg208His (p.R208H) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Creutzfeldt-Jakob Disease, Familial
- Source Database
- DisGeNET
- Description
- To report the clinical and neuropathological features in the first patient seen, to our knowledge, with familial Creutzfeldt-Jakob disease and an R208H mutation associated with a Val/Val homozygosity at codon 129 in the prion protein gene (PRNP) and a type 2 protease-resistant prion protein.
- Pubmed
- 16533975
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0122148842436137
- Year of publication
- 2006
Drugs