Variant information
Systematic Name (NM_004992.3:) |
c.380C>T |
---|---|
Protein name (NP_004983) |
p.Pro127Leu |
Alternate systematic Name (NM_001110792.1:) |
c.416C>T |
Alternate Protein name (NP_001104262) |
p.(Pro139Leu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296899G>A |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.380C>T | p.Pro127Leu | Female | Rett syndrome-Preserved speech | 291 | MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 | View details |
2 | c.380C>T | p.Pro127Leu | Female | Rett syndrome-Classical | 2457 | ::: | View details |
3 | c.380C>T | p.Pro127Leu | Female | Rett syndrome-not certain | 3096 | 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.380C>T | p.Pro127Leu | Female | Rett syndrome-not certain | 3426 | 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 |
5 | c.380C>T | p.Pro127Leu | Female | Rett syndrome-classical | 4095 | 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 |