No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.378-74C>T |
intronic variation |
Female |
Affected sister has variation |
Not Known |
2056 |
::: |
2 |
c.378-74C>T |
intronic variation |
Female |
Affected sister has variation |
Not Known |
2057 |
::: |
3 |
c.378-74C>T |
intronic variation |
Male |
present in healthy maternal grandfather |
Not Rett synd. |
2764 |
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510 |
4 |
c.378-74C>T |
intronic variation |
Female |
|
Rett syndrome-classical |
3799 |
:Khajuria R, Genetics Unit, Dept. of Pedatrics, All India Institute of Medical Sciences:: |
5 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
3931 |
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510 |
6 |
c.378-74C>T |
intronic variation |
Female |
|
Not Rett synd. |
3932 |
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510 |
7 |
c.378-74C>T |
intronic variation |
Female |
|
Rett syndrome-Classical |
4354 |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |
8 |
c.378-74C>T |
intronic variation |
Female |
|
Rett syndrome-Classical |
4355 |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |
9 |
c.378-74C>T |
intronic variation |
Female |
|
Rett syndrome-Classical |
4356 |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |
10 |
c.378-74C>T |
intronic variation |
Female |
absent in mother |
Rett syndrome-Classical |
4357 |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |
11 |
c.378-74C>T |
intronic variation |
Female |
absent in mother |
Rett syndrome-Classical |
4358 |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |
12 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5082 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
13 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5083 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
14 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5084 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
15 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5085 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
16 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5086 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
17 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5087 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
18 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5088 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
19 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5089 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
20 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5090 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
21 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5091 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
22 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5092 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
23 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5093 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
24 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5094 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
25 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5095 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
26 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5096 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
27 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5097 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
28 |
c.378-74C>T |
intronic variation |
Male |
|
Not Rett synd. |
5098 |
Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 |
29 |
c.378-74C>T |
|
Female |
|
Not Rett synd. |
6848 |
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 |