Variant information
Systematic Name (NM_004992.3:) |
c.1038C>G |
---|---|
Protein name (NP_004983) |
p.Ser346Arg |
Alternate systematic Name (NM_001110792.1:) |
c.1074C>G |
Alternate Protein name (NP_001104262) |
p.(Ser358Arg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296241G>C |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1038C>G | p.Ser346Arg | Female | Rett syndrome-Classical | 939 | 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 |