Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Pro105Thr (p.P105T)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Pro105Ser (p.P105S) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Pro105Thr (p.P105T) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Pro105Ser (p.P105S) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Prion Diseases
- Source Database
- DisGeNET
- Description
- Atypical prion protein conformation in familial prion disease with PRNP P105T mutation.
- Pubmed
- 20875062
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.481088376032419
- Year of publication
- 2011
Drugs