Variant information


Systematic Name c.378-74C>T
Protein name
Mutation type intronic
Domain intronic
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection HRM, sequencing
Extent
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial NK
Phenotype-class Not Rett synd.-mental retardation
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
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