Variant information
Systematic Name (NM_004992.3:) |
c.452A>G |
---|---|
Protein name (NP_004983) |
p.Asp151Gly |
Alternate systematic Name (NM_001110792.1:) |
c.488A>G |
Alternate Protein name (NP_001104262) |
p.(Asp163Gly) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296827T>C |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.452A>G | p.Asp151Gly | Female | Rett syndrome-atypical | 2958 | 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 |
2 | c.452A>G | p.Asp151Gly | Female | Rett syndrome-not certain | 3434 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |