Annotation Detail
Information
- Associated Genes
- PRX
- Associated Variants
-
PRX p.Arg291Ter (p.R291*)
(
ENST00000291825.11,
ENST00000324001.8,
ENST00000673881.1,
ENST00000674005.2,
ENST00000674773.1 )
PRX p.Arg291= (p.R291=) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg291Ter (p.R291*) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 )
PRX p.Arg291= (p.R291=) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 ) - Associated Disease
- Charcot-Marie-Tooth disease
- Source Database
- DisGeNET
- Description
- After characterizing the human PRX gene, we identified a nonsense R196X mutation in the Lebanese family which cosegregated with CMT.
- Pubmed
- 11157804
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00943445217435406
- Year of publication
- 2001
Drugs