No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.1126C>T |
p.Pro376Ser |
Male |
Relative of proband |
Not Rett synd. |
152 |
Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 |
2 |
c.1126C>T |
p.Pro376Ser |
Female |
Relative of proband |
Not Rett synd. |
153 |
Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 |
3 |
c.1126C>T |
p.Pro376Ser |
Female |
Unaffected father is carrier |
Rett syndrome-Not certain |
1538 |
MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600 |
4 |
c.1126C>T |
p.Pro376Ser |
Male |
Relative of proband |
Not Rett synd. |
1539 |
MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600 |
5 |
c.1126C>T |
p.Pro376Ser |
Male |
Affected mother 226-I-1 is homozygous for variation (226-I-1's parents are cousins) |
Not Rett synd. |
1570 |
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |
6 |
c.1126C>T |
p.Pro376Ser |
Female |
|
Rett syndrome-Not certain |
1655 |
::: |
7 |
c.1126C>T |
p.Pro376Ser |
Female |
|
Not Known |
1724 |
:Friez, Michael:: |
8 |
c.1126C>T |
p.Pro376Ser |
Female |
|
Not Known |
1757 |
:Friez, Michael:: |
9 |
c.1126C>T |
p.Pro376Ser |
Male |
|
Not Rett synd. |
1908 |
::: |
10 |
c.1126C>T |
p.Pro376Ser |
Female |
|
Not Known |
2126 |
:Cardiff, UK:: |
11 |
c.1126C>T |
p.Pro376Ser |
Male |
|
Not Rett synd. |
2153 |
:Cardiff, UK:: |
12 |
c.1126C>T |
p.Pro376Ser |
Female |
Father has variation |
Not Rett synd. |
2493 |
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307 |
13 |
c.1126C>T |
p.Pro376Ser |
Female |
Father has variation |
Not Rett synd. |
2495 |
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307 |
14 |
c.1126C>T |
p.Pro376Ser |
Female |
mother asymptomatic carrier |
Rett syndrome-classical |
2858 |
Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic̣, R., Mangone, L.:American Journal of Medical Genetics: 12567420 |
15 |
c.1126C>T |
p.Pro376Ser |
Female |
in daughter with RTT |
Not Rett synd. |
4045 |
Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic̣, R., Mangone, L.:American Journal of Medical Genetics: 12567420 |
16 |
c.1126C>T |
p.Pro376Ser |
Female |
in unaffected mother |
Rett syndrome-not certain |
4072 |
Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |
17 |
c.1126C>T |
p.Pro376Ser |
Female |
in daughter with RTT |
Not Rett synd. |
4073 |
Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |