Proband information
Proband id | 1244 |
---|---|
Systematic Name (NM_004992.3:) |
c.468C>G |
Protein name (NP_004983) |
p.Asp156Glu |
Alternate systematic Name (NM_001110792.1:) |
c.504C>G |
Alternate Protein name (NP_001104262) |
p.(Asp168Glu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296811G>C |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | NC |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Not known |
Phenotype-class | Rett syndrome-Not certain |
Reference | 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 |
Matching entries in the proband database
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 |