Variant information


Systematic Name
(NM_004992.3:)		 c.1157_1188del32
Protein name
(NP_004983)		 p.Leu386fs
Alternate systematic Name
(NM_001110792.1:)		 c.1193_1224del32
Alternate Protein name
(NP_001104262)		 p.(Leu398Argfs*8)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296091_153296122del32
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_1188del32 p.Leu386fs Female Rett syndrome-Preserved speech 1181 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
2 c.1157_1188del32 p.Leu386fs Female Rett syndrome-Not certain 1257 Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 View details
3 c.1157_1188del32 p.Leu386fs Female Rett syndrome-Classical 1545 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
4 c.1157_1188del32 p.Leu386fs Female Not Rett synd. 1546 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_1188del32 p.Leu386fs Female Rett syndrome-Classical 2115 :Cardiff, UK:: View details
6 c.1157_1188del32 p.Leu386fs Female Rett syndrome-Atypical 2116 :Cardiff, UK:: View details
7 c.1157_1188del32 p.Leu386fs Female Rett syndrome-atypical 2973 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
8 c.1157_1188del32 p.Leu386fs Female Rett syndrome-not certain 3297 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
9 c.1157_1188del32 p.Leu386fs Female Rett syndrome-not certain 3304 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
10 c.1157_1188del32 p.Leu386fs Female Rett syndrome-not certain 3357 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 View details
11 c.1157_1188del32 p.Leu386fs Female Rett syndrome-not certain 3509 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
12 c.1157_1188del32 p.Leu386fs Female Rett syndrome-not certain 4709 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