Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Arg180Ter (p.R180*)
(
ENST00000303391.11,
ENST00000407218.5,
ENST00000415944.4,
ENST00000453960.7,
ENST00000628176.2 )
MECP2 p.Arg180= (p.R180=) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg180Ter (p.R180*) ( ENST00000453960.7, ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000628176.2 )
MECP2 p.Arg180= (p.R180=) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 ) - Associated Disease
- Down syndrome
- Source Database
- DisGeNET
- Description
- Laboratory confirmation of the dual diagnosis, which includes a R168X mutation in the MECP2 gene in addition to trisomy 21, has now been possible.
- Pubmed
- 15228575
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2004
Drugs