No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.710dupG |
p.Gly238fs |
Female |
|
Rett syndrome-Not certain |
32 |
MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 |
2 |
c.710dupG |
p.Gly238fs |
Female |
|
Rett syndrome-Classical |
386 |
::: |
3 |
c.710dupG |
p.Gly238fs |
Female |
Neither parent has variation |
Rett syndrome-Classical |
1424 |
DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 |
4 |
c.710dupG |
p.Gly238fs |
Female |
|
Not Known |
1795 |
:Friez, Michael:: |
5 |
c.710dupG |
p.Gly238fs |
Female |
de novo |
Rett syndrome-classical |
2896 |
MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102 |
6 |
c.710dupG |
p.Gly238fs |
Female |
|
Rett syndrome-not certain |
5066 |
Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 |
7 |
c.710dupG |
p.Gly238fs |
Female |
|
Rett syndrome-classical |
6633 |
::: |