Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Ala152Val (p.A152V)
(
ENST00000303391.11,
ENST00000407218.5,
ENST00000415944.4,
ENST00000453960.7,
ENST00000628176.2 )
MECP2 p.Ala152Glu (p.A152E) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Ala152Val (p.A152V) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Ala152Glu (p.A152E) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 ) - Associated Disease
- nervous system disorder
- Source Database
- DisGeNET
- Description
- The neurologic disorder associated with A140V MECP2 mutation is not necessarily lethal in men, but they are more severely affected than women of the same family.
- Pubmed
- 11805248
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0140489639997192
- Year of publication
- 2002
Drugs