Variant information
Systematic Name (NM_004992.3:) |
c.1156_1172del17 |
---|---|
Protein name (NP_004983) |
p.Leu386* |
Alternate systematic Name (NM_001110792.1:) |
c.1192_1208del17 |
Alternate Protein name (NP_001104262) |
p.(Leu398*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296107_153296123del17 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1156_1172del17 | p.Leu386* | Female | Rett syndrome-Classical | 936 | 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 |
2 | c.1156_1172del17 | p.Leu386* | Female | Rett syndrome-not certain | 3296 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |