Variant information
Systematic Name (NM_004992.3:) |
c.1157_1200del44 |
---|---|
Protein name (NP_004983) |
p.Leu386fs |
Alternate systematic Name (NM_001110792.1:) |
c.1193_1236del44 |
Alternate Protein name (NP_001104262) |
p.(Leu398Glnfs*4) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296079_153296122del44 |
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_1200del44 | p.Leu386fs | Female | Rett syndrome-Not certain | 125 | Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 | View details |
2 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Classical | 391 | ::: | View details |
3 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Classical | 448 | ::: | View details |
4 | c.1157_1200del44 | p.Leu386fs | Unknown | Rett syndrome-Classical | 917 | ::: | View details |
5 | c.1157_1200del44 | p.Leu386fs | Female | Not Rett synd. | 1151 | Angelman syndrome phenotype associated with mutations in MeCP2, a gene encoding a methyl CpG binding protein:Watson, Pamela, Black, Graeme, Ramsden, Simon, Barrow, Margaret, Super, Maurice, Kerr, Bronwyn, Clayton-Smith, Jill:Journal of Medical Genetics: 11283202 | View details |
6 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Classical | 1457 | 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 |
7 | c.1157_1200del44 | p.Leu386fs | Female | Not Known | 1698 | :Friez, Michael:: | View details |
8 | c.1157_1200del44 | p.Leu386fs | Female | Not Known | 2008 | ::: | View details |
9 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Atypical | 2107 | :Cardiff, UK:: | View details |
10 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Classical | 2108 | :Cardiff, UK:: | View details |
11 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Atypical | 2109 | :Cardiff, UK:: | View details |
12 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Classical | 2110 | :Cardiff, UK:: | View details |
13 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Atypical | 2111 | :Cardiff, UK:: | View details |
14 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Atypical | 2112 | :Cardiff, UK:: | View details |
15 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-Classical | 2625 | 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 |
16 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-preserved speech | 2863 | 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 |
17 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-not certain | 3064 | 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 |
18 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-not certain | 3307 | 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 |
19 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-not certain | 3308 | 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 |
20 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-classical | 3359 | MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 | View details |
21 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-NK | 3758 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
22 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-NK | 3759 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
23 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-NK | 3760 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
24 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-classical | 3871 | Rapid detection of deletions in hotspot c-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin:Khajuria, R., Sapra, S., Ghosh, M., Gupta, N., Gulati, S., Kalra, V., Kabra, M.:Genetic Testing and Molecular Biomarkers: 19371229 | View details |
25 | c.1157_1200del44 | p.Leu386fs | Female | Not Known | 4414 | :Das, S., Dempsey, M. U. Chicago:: | View details |
26 | c.1157_1200del44 | p.Leu386fs | Female | Not Known | 4415 | :Das, S., Dempsey, M. U. Chicago:: | View details |
27 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-classical | 4931 | Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432 | View details |
28 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-classical | 6660 | ::: | View details |
29 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-classical | 6659 | ::: | View details |
30 | c.1157_1200del44 | p.Leu386fs | Female | Rett syndrome-classical | 6658 | ::: | View details |