Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Thr183Ala (p.T183A)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Thr183Ala (p.T183A) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Prion Diseases
- Source Database
- DisGeNET
- Description
- A heterozygous T183A mutation in the prion protein (PrP) gene, PRNP, was identified in a patient with histopathologically confirmed spongiform encephalopathy.
- Pubmed
- 15558291
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.481088376032419
- Year of publication
- 2004
Drugs