Variant information
Systematic Name (NM_004992.3:) |
c.343_1282del |
---|---|
Protein name (NP_004983) |
p.Arg115_Glu394del |
Alternate systematic Name (NM_001110792.1:) |
c.379_1318del |
Alternate Protein name (NP_001104262) |
p.(Arg127Alafs*54) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295997_153297692del |
Mutation type | in-frame insertion or deletion |
Domain | MBD, inter-domain, TRD, TRD-NLS, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.343_1282del | p.Arg115_Glu394del | Female | Rett syndrome-not certain | 4306 | Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677 | View details |