Variant information
Systematic Name (NM_004992.3:) |
c.422A>G |
---|---|
Protein name (NP_004983) |
p.Tyr141Cys |
Alternate systematic Name (NM_001110792.1:) |
c.458A>G |
Alternate Protein name (NP_001104262) |
p.(Tyr153Cys) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296857T>C |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.422A>G | p.Tyr141Cys | Female | Rett syndrome-Atypical | 2519 | Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation:Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M:Clinical Genetics: 16879196 | View details |
2 | c.422A>G | p.Tyr141Cys | Female | Rett syndrome-atypical | 2956 | 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 |
3 | c.422A>G | p.Tyr141Cys | Female | Rett syndrome-not certain | 3113 | 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 |
4 | c.422A>G | p.Tyr141Cys | Female | Rett syndrome-not certain | 3114 | 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 |
5 | c.422A>G | p.Tyr141Cys | Female | Rett syndrome-not certain | 3115 | 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 |