Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Pro102Leu (p.P102L)
(
ENST00000457586.2,
ENST00000430350.2,
ENST00000379440.9,
ENST00000424424.2 )
PRNP p.Pro105Gln (p.P105Q) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Pro105Leu (p.P105L) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Ala117Val (p.A117V) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Tyr145Ter (p.Y145*) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Glu200Lys (p.E200K) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Val210Ile (p.V210I) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Pro102Leu (p.P102L) ( ENST00000379440.9, ENST00000457586.2, ENST00000430350.2, ENST00000424424.2 )
PRNP p.Pro105Gln (p.P105Q) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Pro105Leu (p.P105L) ( ENST00000457586.2, ENST00000379440.9, ENST00000430350.2, ENST00000424424.2 )
PRNP p.Ala117Val (p.A117V) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Tyr145Ter (p.Y145*) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Glu200Lys (p.E200K) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Val210Ile (p.V210I) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- cerebellar ataxia
- Source Database
- DisGeNET
- Description
- Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E200K, D202N, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin.
- Pubmed
- 18566986
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2008
Drugs