No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.317G>A |
p.Arg106Gln |
Female |
Mother is not carrier |
Rett syndrome-Classical |
372 |
::: |
2 |
c.317G>A |
p.Arg106Gln |
Female |
Neither parent has variation |
Rett syndrome-Classical |
921 |
MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 |
3 |
c.317G>A |
p.Arg106Gln |
Female |
Neither parent has variation |
Rett syndrome-Not certain |
1025 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
4 |
c.317G>A |
p.Arg106Gln |
Female |
|
Rett syndrome-Not certain |
1026 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
5 |
c.317G>A |
p.Arg106Gln |
Female |
Affected sister has variation |
Rett syndrome-Not certain |
1262 |
The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome:Ishii, Takuma, Makita, Yoshio, Ogawa, Atsushi, Amamiya, Satoshi, Yamamoto, Michio, Miyamoto, Akie and Oki, Junichi:Brain and Development: 11738865 |
6 |
c.317G>A |
p.Arg106Gln |
Female |
Affected sister has variation |
Rett syndrome-Not certain |
1263 |
The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome:Ishii, Takuma, Makita, Yoshio, Ogawa, Atsushi, Amamiya, Satoshi, Yamamoto, Michio, Miyamoto, Akie and Oki, Junichi:Brain and Development: 11738865 |
7 |
c.317G>A |
p.Arg106Gln |
Female |
Affected sister has variation |
Rett syndrome-Not certain |
1882 |
::: |
8 |
c.317G>A |
p.Arg106Gln |
Female |
Affected sister has variation |
Rett syndrome-Not certain |
1883 |
::: |
9 |
c.317G>A |
p.Arg106Gln |
Female |
|
Not Known |
2033 |
::: |
10 |
c.317G>A |
p.Arg106Gln |
Female |
Researcher claims neither parent has variation |
Rett syndrome-Classical |
2436 |
::: |
11 |
c.317G>A |
p.Arg106Gln |
Female |
|
Rett syndrome-not certain |
3084 |
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 |
12 |
c.317G>A |
p.Arg106Gln |
Female |
|
Rett syndrome-not certain |
3085 |
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 |
13 |
c.317G>A |
p.Arg106Gln |
Female |
|
Rett syndrome-not certain |
3086 |
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.317G>A |
p.Arg106Gln |
Female |
|
Rett syndrome-not certain |
3418 |
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 |
15 |
c.317G>A |
p.Arg106Gln |
Female |
de novo |
Rett syndrome-not certain |
3525 |
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 |
16 |
c.317G>A |
p.Arg106Gln |
Female |
de novo |
Rett syndrome-classical |
3631 |
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 |
17 |
c.317G>A |
p.Arg106Gln |
Female |
de novo |
Rett syndrome-classical |
3632 |
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 |
18 |
c.317G>A |
p.Arg106Gln |
Female |
|
Rett syndrome-not certain |
4730 |
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 |
19 |
c.317G>A |
p.Arg106Gln |
Female |
|
Rett syndrome-not certain |
4731 |
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 |
20 |
c.317G>A |
p.Arg106Gln |
Female |
Mother,Father-Negative |
Rett syndrome-classical |
6759 |
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 |
21 |
c.317G>A |
p.Arg106Gln |
Female |
|
Rett syndrome-classical |
6577 |
::: |