Variant information
Systematic Name (NM_004992.3:) |
c.215dupC |
---|---|
Protein name (NP_004983) |
p.Ala73fs |
Alternate systematic Name (NM_001110792.1:) |
c.251dupC |
Alternate Protein name (NP_001104262) |
p.(Ala85Glyfs*18) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297820dupG |
Mutation type | frameshift insertion or deletion |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.215dupC | p.Ala73fs | Female | Rett syndrome-classical | 2930 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | View details |