Variant information
Systematic Name (NM_004992.3:) |
c.499C>T |
---|---|
Protein name (NP_004983) |
p.Arg167Trp |
Alternate systematic Name (NM_001110792.1:) |
c.535C>T |
Alternate Protein name (NP_001104262) |
p.(Arg179Trp) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296780G>A |
Mutation type | missense |
Domain | inter-domain region |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.499C>T | p.Arg167Trp | Male | Not Rett synd. | 1013 | 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 |
2 | c.499C>T | p.Arg167Trp | Female | Not Known | 4458 | :Das, S., Dempsey, M. U. Chicago:: | View details |
3 | c.499C>T | p.Arg167Trp | Female | Not Rett synd. | 4459 | :Das, S., Dempsey, M. U. Chicago:: | View details |
4 | c.499C>T | p.Arg167Trp | Female | Not Known | 4460 | :Das, S., Dempsey, M. U. Chicago:: | View details |
5 | c.499C>T | p.Arg167Trp | Male | Not Rett synd. | 6591 | ::: | View details |