Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Thr170Met (p.T170M)
(
ENST00000303391.11,
ENST00000415944.4,
ENST00000407218.5,
ENST00000453960.7,
ENST00000628176.2 )
MECP2 p.Thr170Met (p.T170M) ( ENST00000453960.7, ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000628176.2 ) - Associated Disease
- Encephalopathies
- Source Database
- DisGeNET
- Description
- Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2.
- Pubmed
- 12719401
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00515739556952576
- Year of publication
- 2003
Drugs