Variant information
Systematic Name (NM_004992.3:) |
c.410A>G |
---|---|
Protein name (NP_004983) |
p.Glu137Gly |
Alternate systematic Name (NM_001110792.1:) |
c.446A>G |
Alternate Protein name (NP_001104262) |
p.(Glu149Gly) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296869T>C |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.410A>G | p.Glu137Gly | Male | Not Rett synd. | 1012 | MECP2 is highly mutated in X-linked mental retardation:Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel and Cherif, Beldjord:Human Molecular Genetics: 11309367 | View details |