Variant information
Systematic Name (NM_004992.3:) |
c.964C>G |
---|---|
Protein name (NP_004983) |
p.Pro322Ala |
Alternate systematic Name (NM_001110792.1:) |
c.1000C>G |
Alternate Protein name (NP_001104262) |
p.(Pro334Ala) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296315G>C |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.964C>G | p.Pro322Ala | Female | Rett syndrome-Classical | 1403 | DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 | View details |
2 | c.964C>G | p.Pro322Ala | Female | Rett syndrome-Not certain | 2177 | :Cardiff, UK:: | View details |
3 | c.964C>G | p.Pro322Ala | Female | Rett syndrome-classical | 2948 | 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 |
4 | c.964C>G | p.Pro322Ala | Female | Rett syndrome-not certain | 3163 | 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.964C>G | p.Pro322Ala | Female | Rett syndrome-not certain | 3164 | 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.964C>G | p.Pro322Ala | Female | Rett syndrome-classical | 3807 | Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorder:Wong, V.C.N., Li, S.Y.H.:Journal of Child Neurology: 18174559 | View details |
7 | c.964C>G | p.Pro322Ala | Female | Rett syndrome-classical | 4817 | Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873 | View details |