Proband information



Proband id 2057
Systematic Name c.378-74C>T
Protein name intronic variation
Mutation type Intronic variation
Domain Intronic
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Not Known
Carrier Y
Carrier result Affected sister has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Familial
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.378-74C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Known 2056 :::
2 c.378-74C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Known 2057 :::
3 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease Female 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 intronic variation intronic Polymorphism not causing disease Female 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic variation intronic Polymorphism not causing disease 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 intronic intronic Polymorphism not causing disease 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