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
- Mental Retardation
- Source Database
- DisGeNET
- Description
- Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
- Pubmed
- 12325019
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0275787884736678
- Year of publication
- 2002
Drugs