No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
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 |
2 |
c.380C>T |
p.Pro127Leu |
Female |
|
Rett syndrome-Classical |
2457 |
::: |
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 |
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 |
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 |