Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Arg318Cys (p.R318C)
(
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.Arg318Cys (p.R318C) ( 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
- autistic disorder
- Source Database
- DisGeNET
- Description
- Females with the p.R306C or p.T158M mutations in the MECP2 gene were more likely to have an initial diagnosis of autism, and the specific Rett syndrome symptoms were noted at a later age.
- Pubmed
- 17684768
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.15656616481731
- Year of publication
- 2008
Drugs