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
- FFI is associated with an aspartic acid to asparagine mutation at codon 178 of the PrP gene (D178N) in conjunction with methionine at the codon 129 polymorphic site on the mutant allele (cis-129M).
- Pubmed
- 9270595
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.587816554605694
- Year of publication
- 1997
Drugs