No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.965C>T |
p.Pro322Leu |
Female |
|
Rett syndrome-Not certain |
79 |
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.965C>T |
p.Pro322Leu |
Female |
|
Rett syndrome-Classical |
2178 |
:Cardiff, UK:: |
3 |
c.965C>T |
p.Pro322Leu |
Female |
Researcher claims neither parent has variation |
Rett syndrome-Classical |
2424 |
::: |
4 |
c.965C>T |
p.Pro322Leu |
Female |
|
Rett syndrome-classical |
2818 |
Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765 |
5 |
c.965C>T |
p.Pro322Leu |
Female |
|
Rett syndrome-not certain |
3165 |
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 |
6 |
c.965C>T |
p.Pro322Leu |
Female |
de novo |
Rett syndrome-not certain |
3564 |
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.965C>T |
p.Pro322Leu |
Female |
|
Rett syndrome-Classical |
4287 |
Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 |
8 |
c.965C>T |
p.Pro322Leu |
Female |
|
Rett syndrome-classical |
6349 |
::: |
9 |
c.965C>T |
p.Pro322Leu |
Female |
|
Rett syndrome-classical |
6348 |
::: |