Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Pro401Ter (p.P401*)
(
ENST00000303391.11,
ENST00000407218.5,
ENST00000415944.4,
ENST00000453960.7,
ENST00000628176.2 )
MECP2 p.Leu398HisfsTer5 (p.L398Hfs*5) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Pro401Ter (p.P401*) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Leu398HisfsTer5 (p.L398Hfs*5) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Glu495Ter (p.E495*) ( ENST00000303391.11, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg321Trp (p.R321W) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg306Ter (p.R306*) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg306Gly (p.R306G) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Thr170Met (p.T170M) ( ENST00000303391.11, ENST00000415944.4, ENST00000407218.5, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Glu495Ter (p.E495*) ( ENST00000303391.11, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg321Trp (p.R321W) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg306Ter (p.R306*) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg306Gly (p.R306G) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Thr170Met (p.T170M) ( ENST00000453960.7, ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000628176.2 ) - Associated Disease
- AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs