No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
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 |
2 |
c.964C>G |
p.Pro322Ala |
Female |
|
Rett syndrome-Not certain |
2177 |
:Cardiff, UK:: |
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 |
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 |
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 |
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 |
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 |