Variant information
Systematic Name (NM_004992.3:) |
c.1157_1197del41 |
---|---|
Protein name (NP_004983) |
p.Leu386fs |
Alternate systematic Name (NM_001110792.1:) |
c.1193_1233del41 |
Alternate Protein name (NP_001104262) |
p.(Leu398Hisfs*5) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296082_153296122del41 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Not certain | 39 | 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 | View details |
2 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Preserved speech | 347 | Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 | View details |
3 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Classical | 482 | ::: | View details |
4 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Preserved speech | 1180 | Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022 | View details |
5 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Classical | 1206 | Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567 | View details |
6 | c.1157_1197del41 | p.Leu386fs | Unknown | Rett syndrome-Not certain | 1363 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
7 | c.1157_1197del41 | p.Leu386fs | Unknown | Rett syndrome-Not certain | 1364 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
8 | c.1157_1197del41 | p.Leu386fs | Unknown | Rett syndrome-Not certain | 1365 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
9 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Not certain | 1379 | Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome:Lam, Ching-Wan, Yeung, Wai-Lan, Ko, Chung-Hung, Poon, Priscilla M K, Tong, Sui-Fan, Chan, Kwok-Yin, Lo, Ivan F M, Chan, Lisa Y S, Hui, Joannie, Wong, Virginia, Pang, Chi-Pui, Lo, Y M Dennis, Fok, Tai-Fai:Journal of Medical Genetics: 11106359 | View details |
10 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Classical | 1428 | DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 | View details |
11 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Classical | 1455 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | View details |
12 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Not certain | 1606 | :Bunyan, D.:: | View details |
13 | c.1157_1197del41 | p.Leu386fs | Female | Not Known | 1741 | :Friez, Michael:: | View details |
14 | c.1157_1197del41 | p.Leu386fs | Female | Not Known | 1768 | :Friez, Michael:: | View details |
15 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Not certain | 1834 | :Bunyan, D.:: | View details |
16 | c.1157_1197del41 | p.Leu386fs | Female | Not Known | 2014 | ::: | View details |
17 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Classical | 2113 | :Cardiff, UK:: | View details |
18 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Classical | 2114 | :Cardiff, UK:: | View details |
19 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Classical | 2624 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | View details |
20 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-not certain | 2770 | A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963 | View details |
21 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-preserved speech | 2862 | Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420 | View details |
22 | c.1157_1197del41 | p.Leu386fs | Female | Not Rett synd. | 2910 | Identification of MeCP2 mutations in a series of females with autistic disorder:Carney, R.M., Wolpert, C.M., Ravan, S.A., Shahbazian, M., Ashley-Koch, A., Cuccaro, M.L., Vance, J.M., Pericak-Vance, M.A.:Pediatr Neurol: 12770674 | View details |
23 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-atypical | 2971 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | View details |
24 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-atypical | 2972 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | View details |
25 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-classical | 3046 | MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 | View details |
26 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-classical | 3047 | MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 | View details |
27 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-not certain | 3063 | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 | View details |
28 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-not certain | 3292 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
29 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-not certain | 3305 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
30 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-not certain | 3306 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
31 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-not certain | 3511 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
32 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-not certain | 3512 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
33 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-Classical | 4343 | 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 | View details |
34 | c.1157_1197del41 | p.Leu386fs | Female | Not Known | 4412 | :Das, S., Dempsey, M. U. Chicago:: | View details |
35 | c.1157_1197del41 | p.Leu386fs | Female | Not Known | 4413 | :Das, S., Dempsey, M. U. Chicago:: | View details |
36 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-not certain | 4710 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | View details |
37 | c.1157_1197del41 | p.Leu386fs | Female | Not Rett synd. | 4770 | Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 | View details |
38 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-classical | 4771 | Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 | View details |
39 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-atypical | 4772 | Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 | View details |
40 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-not certain | 4922 | Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991 | View details |
41 | c.1157_1197del41 | p.Leu386fs | Female | Not Rett synd. | 5135 | MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 | View details |
42 | c.1157_1197del41 | p.Leu386Hisfs*5 | Female | Rett syndrome-atypical | 6753 | 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 | View details |
43 | c.1157_1197del41 | p.Leu386Hisfs*5 | Female | Rett syndrome-classical | 6752 | 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 | View details |
44 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-forme fruste | 6655 | ::: | View details |
45 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-classical | 6654 | ::: | View details |
46 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-forme fruste | 6653 | ::: | View details |
47 | c.1157_1197del41 | p.Leu386fs | Female | Rett syndrome-classical | 6652 | ::: | View details |