Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Arg145Cys (p.R145C)
(
ENST00000303391.11,
ENST00000407218.5,
ENST00000415944.4,
ENST00000453960.7,
ENST00000628176.2 )
MECP2 p.Arg145Gly (p.R145G) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg145Cys (p.R145C) ( ENST00000453960.7, ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000628176.2 )
MECP2 p.Arg145Gly (p.R145G) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 ) - Associated Disease
- Rett syndrome
- Source Database
- DisGeNET
- Description
- Classic Rett syndrome in a boy with R133C mutation of MECP2.
- Pubmed
- 16122633
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.8
- Year of publication
- 2005
Drugs