Variant information
Systematic Name (NM_004992.3:) |
c.904C>G |
---|---|
Protein name (NP_004983) |
p.Pro302Ala |
Alternate systematic Name (NM_001110792.1:) |
c.940C>G |
Alternate Protein name (NP_001104262) |
p.(Pro314Ala) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296375G>C |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.904C>G | p.Pro302Ala | Female | Rett syndrome-Preserved speech | 120 | Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 | View details |
2 | c.904C>G | p.Pro302Ala | Female | Rett syndrome-Classical | 318 | 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 |
3 | c.904C>G | p.Pro302Ala | Female | Rett syndrome-not certain | 3080 | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 | View details |
4 | c.904C>G | p.Pro302Ala | Female | Rett syndrome-not certain | 3140 | 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 |