Variant information
Systematic Name (NM_004992.3:) |
c.403A>G |
---|---|
Protein name (NP_004983) |
p.Lys135Glu |
Alternate systematic Name (NM_001110792.1:) |
c.439A>G |
Alternate Protein name (NP_001104262) |
p.(Lys147Glu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296876T>C |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.403A>G | p.Lys135Glu | Unknown | Rett syndrome-Not certain | 1286 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
2 | c.403A>G | p.Lys135Glu | Unknown | Rett syndrome-Not certain | 1287 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
3 | c.403A>G | p.Lys135Glu | Female | Rett syndrome-Classical | 2578 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | View details |
4 | c.403A>G | p.Lys135Glu | Female | Rett syndrome-classical | 2934 | 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 |
5 | c.403A>G | p.Lys135Glu | Female | Rett syndrome-not certain | 3112 | 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 |
6 | c.403A>G | p.Lys135Glu | Female | Rett syndrome-not certain | 3433 | 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 |
7 | c.403A>G | p.Lys135Glu | Female | Rett syndrome-classical | 4096 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
8 | c.403A>G | p.Lys135Glu | Female | Rett syndrome-preserved speech | 6618 | ::: | View details |