No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.468C>G |
p.Asp156Glu |
Female |
|
Rett syndrome-Not certain |
1243 |
Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 |
2 |
c.468C>G |
p.Asp156Glu |
Female |
|
Rett syndrome-Not certain |
1244 |
Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 |
3 |
c.468C>G |
p.Asp156Glu |
Unknown |
|
Rett syndrome-classical |
1522 |
Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741 |
4 |
c.468C>G |
p.Asp156Glu |
Female |
|
Not Known |
1788 |
:Friez, Michael:: |
5 |
c.468C>G |
p.Asp156Glu |
Female |
|
Rett syndrome-not certain |
3117 |
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.468C>G |
p.Asp156Glu |
Female |
|
Rett syndrome-not certain |
3440 |
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.468C>G |
p.Asp156Glu |
Female |
|
Rett syndrome-not certain |
3441 |
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 |
8 |
c.468C>G |
p.Asp156Glu |
Female |
de novo |
Rett syndrome-classical |
3652 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
9 |
c.468C>G |
p.Asp156Glu |
Female |
de novo |
Rett syndrome-classical |
3653 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
10 |
c.468C>G |
p.Asp156Glu |
Female |
|
Rett syndrome-Classical |
4245 |
Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 |
11 |
c.468C>G |
p.Asp156Glu |
Female |
|
Rett syndrome-not certain |
4319 |
Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677 |
12 |
c.468C>G |
p.Asp156Glu |
Female |
|
Not Known |
4443 |
:Das, S., Dempsey, M. U. Chicago:: |
13 |
c.468C>G |
p.Asp156Glu |
Female |
parent tested normal |
Not Known |
4444 |
:Das, S., Dempsey, M. U. Chicago:: |
14 |
c.468C>G |
p.Asp156Glu |
Female |
|
Rett syndrome-classical |
4849 |
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 |
15 |
c.468C>G |
p.Asp156Glu |
Female |
Mother,Father-Negative |
Rett syndrome-classical |
6732 |
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 |