No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.401C>T |
p.Ser134Phe |
Female |
|
Not Known |
1740 |
:Friez, Michael:: |
2 |
c.401C>T |
p.Ser134Phe |
Female |
|
Rett syndrome-classical |
2986 |
Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954 |
3 |
c.401C>T |
p.Ser134Phe |
Female |
de novo |
Rett syndrome-classical |
3624 |
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 |
4 |
c.401C>T |
p.Ser134Phe |
Female |
|
Rett syndrome-not certain |
4737 |
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 |
5 |
c.401C>T |
p.Ser134Phe |
Female |
|
Rett syndrome-classical |
6594 |
::: |