No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.401C>G |
p.Ser134Cys |
Female |
Variation not found in parents |
Rett syndrome-Not certain |
106 |
Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 |
2 |
c.401C>G |
p.Ser134Cys |
Female |
Variation not found in parents |
Rett syndrome-Classical |
159 |
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 |
3 |
c.401C>G |
p.Ser134Cys |
Female |
Mother is not carrier, Father is not carrier |
Rett syndrome-Atypical |
361 |
::: |
4 |
c.401C>G |
p.Ser134Cys |
Female |
|
Rett syndrome-Classical |
1441 |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 |
5 |
c.401C>G |
p.Ser134Cys |
Female |
|
Rett syndrome-Classical |
1460 |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 |
6 |
c.401C>G |
p.Ser134Cys |
Female |
|
Rett syndrome-Not certain |
1631 |
:Bunyan, D.:: |
7 |
c.401C>G |
p.Ser134Cys |
Female |
Marginally affected heavily skewed mother has variation, Rett syndrome brother has variation, maternal grandparents do not have variation |
Rett syndrome-Atypical |
1669 |
Clinical profile of a male with Rett syndrome:Sarojini S. Budden, Heather C. Dorsey, Robert D. Steiner:Brain and Development: 16182490 |
8 |
c.401C>G |
p.Ser134Cys |
Female |
Relative of proband |
Not Rett synd. |
1672 |
Clinical profile of a male with Rett syndrome:Sarojini S. Budden, Heather C. Dorsey, Robert D. Steiner:Brain and Development: 16182490 |
9 |
c.401C>G |
p.Ser134Cys |
Male |
Marginally affected heavily skewed mother has variation, atypical Rett syndrome sister has variation, maternal grandparents do not have variation |
Rett syndrome-Male variant |
1673 |
Clinical profile of a male with Rett syndrome:Sarojini S. Budden, Heather C. Dorsey, Robert D. Steiner:Brain and Development: 16182490 |
10 |
c.401C>G |
p.Ser134Cys |
Female |
|
Not Known |
1805 |
:Friez, Michael:: |
11 |
c.401C>G |
p.Ser134Cys |
Female |
|
Rett syndrome-Classical |
2333 |
:Cardiff, UK:: |
12 |
c.401C>G |
p.Ser134Cys |
Female |
|
Rett syndrome-Classical |
2334 |
:Cardiff, UK:: |
13 |
c.401C>G |
p.Ser134Cys |
Female |
|
Rett syndrome-Classical |
2577 |
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 |
14 |
c.401C>G |
p.Ser134Cys |
Female |
|
Rett syndrome-not certain |
3079 |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 |
15 |
c.401C>G |
p.Ser134Cys |
Female |
|
Rett syndrome-classical |
3397 |
Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 |
16 |
c.401C>G |
p.Ser134Cys |
Female |
de novo |
Rett syndrome-not certain |
3538 |
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.401C>G |
p.Ser134Cys |
Female |
de novo |
Rett syndrome-classical |
3645 |
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.401C>G |
p.Ser134Cys |
Female |
|
Not Known |
4437 |
:Das, S., Dempsey, M. U. Chicago:: |
19 |
c.401C>G |
p.Ser134Cys |
Female |
|
Rett syndrome-not certain |
4738 |
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.401C>G |
p.Ser134Cys |
Female |
|
Rett syndrome-classical |
6596 |
::: |
21 |
c.401C>G |
p.Ser134Cys |
Female |
|
Rett syndrome-classical |
6595 |
::: |