No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-Classical |
302 |
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.674C>G |
p.Pro225Arg |
Female |
Neither parent has variation |
Rett syndrome-Classical |
335 |
Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 |
3 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-Not certain |
1249 |
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 |
4 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-Not certain |
1250 |
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 |
5 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-Not certain |
1251 |
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 |
6 |
c.674C>G |
p.Pro225Arg |
Unknown |
|
Rett syndrome-atypical |
1523 |
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 |
7 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-Not certain |
1634 |
:Bunyan, D.:: |
8 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-Not certain |
1651 |
::: |
9 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-Classical |
2173 |
:Cardiff, UK:: |
10 |
c.674C>G |
p.Pro225Arg |
Female |
|
Not Known |
2489 |
Very mild cases of Rett syndrome with skewed X inactivation:Peter Huppke, Esther M Maier, Andreas Warnke, Cornelia Brendel, Franco Laccone and Jutta Gärtner:Journal of Medical Genetics: 16690727 |
11 |
c.674C>G |
p.Pro225Arg |
Female |
sister negative |
Rett syndrome-Classical |
2597 |
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 |
12 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-classical |
3000 |
MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 |
13 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-not certain |
3138 |
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 |
14 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-not certain |
3139 |
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 |
15 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-not certain |
3451 |
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 |
16 |
c.674C>G |
p.Pro225Arg |
Female |
de novo |
Rett syndrome-not certain |
3558 |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
17 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-not certain |
4746 |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 |
18 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-classical |
4812 |
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 |
19 |
c.674C>G |
p.Pro225Arg |
Female |
mother- negative,father-negative,sibling (prenatal diagnosis)-negative |
Not Known |
6739 |
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 |
20 |
c.674C>G |
p.Pro225Arg |
Female |
|
Rett syndrome-classical |
6585 |
::: |