Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Asp178Asn (p.D178N)
(
ENST00000430350.2,
ENST00000457586.2,
ENST00000424424.2,
ENST00000379440.9 )
PRNP p.Asp178Asn (p.D178N) ( ENST00000424424.2, ENST00000379440.9, ENST00000457586.2, ENST00000430350.2 ) - Associated Disease
- fatal familial insomnia
- Source Database
- DisGeNET
- Description
- Fatal familial insomnia (FFI) and genetic Creutzfeldt-Jakob disease (CJD(D178N,)(129V)) are two phenotypes that share a common point mutation at codon 178 of the prion protein gene (PRNP), but differ in their polymorphism at codon 129 of the mutant allele.
- Pubmed
- 21071944
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.587816554605694
- Year of publication
- 2010
Drugs