Proband information
Proband id | 4355 |
---|---|
Systematic Name (NM_004992.3:) |
c.378-74C>T |
Protein name (NP_004983) |
intronic variation |
Alternate systematic Name (NM_001110792.1:) |
c.414-74C>T |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296975G>A |
Mutation type | intronic variation |
Domain | intronic |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | N |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Classical |
Reference | 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 |
Matching entries in the proband database
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 |