No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.834C>T |
p.Ala278Ala |
Female |
|
Rett syndrome-Not certain |
19 |
:Bunyan, D.:: |
2 |
c.834C>T |
p.Ala278Ala |
Female |
|
Rett syndrome-Not certain |
47 |
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 |
3 |
c.834C>T |
p.Ala278Ala |
Female |
|
Rett syndrome-Not certain |
1593 |
:Bunyan, D.:: |
4 |
c.834C>T |
p.Ala278Ala |
Male |
|
Not Rett synd. |
3026 |
Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644 |
5 |
c.834C>T |
p.Ala278Ala |
Unknown |
|
Not Rett synd. |
3920 |
Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248 |
6 |
c.834C>T |
p.Ala278Ala |
Unknown |
|
Not Rett synd. |
3996 |
MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193 |
7 |
c.834C>T |
p.(=) |
Female |
|
Rett syndrome-atypical |
6859 |
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 |