No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.403A>G |
p.Lys135Glu |
Unknown |
|
Rett syndrome-Not certain |
1286 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
2 |
c.403A>G |
p.Lys135Glu |
Unknown |
|
Rett syndrome-Not certain |
1287 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
3 |
c.403A>G |
p.Lys135Glu |
Female |
|
Rett syndrome-Classical |
2578 |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 |
4 |
c.403A>G |
p.Lys135Glu |
Female |
|
Rett syndrome-classical |
2934 |
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 |
5 |
c.403A>G |
p.Lys135Glu |
Female |
|
Rett syndrome-not certain |
3112 |
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.403A>G |
p.Lys135Glu |
Female |
|
Rett syndrome-not certain |
3433 |
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 |
7 |
c.403A>G |
p.Lys135Glu |
Female |
|
Rett syndrome-classical |
4096 |
Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |
8 |
c.403A>G |
p.Lys135Glu |
Female |
|
Rett syndrome-preserved speech |
6618 |
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