No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.398G>A |
p.Arg133His |
Female |
|
Rett syndrome-Not certain |
29 |
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.398G>A |
p.Arg133His |
Female |
Mother is not carrier, Father is not carrier |
Rett syndrome-Atypical |
433 |
::: |
3 |
c.398G>A |
p.Arg133His |
Female |
|
Rett syndrome-Classical |
2226 |
:Cardiff, UK:: |
4 |
c.398G>A |
p.Arg133His |
Female |
|
Rett syndrome-not certain |
3111 |
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 |
5 |
c.398G>A |
p.Arg133His |
Female |
|
Rett syndrome-not certain |
3432 |
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 |
6 |
c.398G>A |
p.Arg133His |
Female |
de novo |
Rett syndrome-not certain |
3536 |
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 |
7 |
c.398G>A |
p.Arg133His |
Female |
de novo |
Rett syndrome-not certain |
3537 |
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 |
8 |
c.398G>A |
p.Arg133His |
Female |
de novo |
Rett syndrome-atypical |
5112 |
::: |