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, X-Linked, Syndromic 13
- Source Database
- DisGeNET
- Description
- MECP2 mutation in male patients with non-specific X-linked mental retardation.
- Pubmed
- 11007980
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2000
Drugs