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., Krńmer, 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, HultÚn, 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., Nistic˛, 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