Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Pro102Leu (p.P102L)
(
ENST00000457586.2,
ENST00000430350.2,
ENST00000379440.9,
ENST00000424424.2 )
PRNP p.Pro102Leu (p.P102L) ( ENST00000379440.9, ENST00000457586.2, ENST00000430350.2, ENST00000424424.2 ) - Associated Disease
- Ataxic
- Source Database
- DisGeNET
- Description
- Ataxic GSS in families shows genetic linkage to a mutation in the PrP gene leading to the substitution of Leu for Pro at codon 102.
- Pubmed
- 1686599
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 1991
Drugs