Variant information
Systematic Name (NM_004992.3:) |
c.1461A>C |
---|---|
Protein name (NP_004983) |
p.*487Cysext*27 |
Alternate systematic Name (NM_001110792.1:) |
c.1497A>C |
Alternate Protein name (NP_001104262) |
p.(*499Cysext*27) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295818T>G |
Mutation type | Nonstop |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1461A>C | p.*487Cysext*27 | Female | Rett syndrome-Classical | 942 | MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 | View details |