Variant information
Systematic Name (NM_004992.3:) |
c.1162_1191del30 |
---|---|
Protein name (NP_004983) |
p.Pro388_Glu397del |
Alternate systematic Name (NM_001110792.1:) |
c.1198_1227del30 |
Alternate Protein name (NP_001104262) |
p.(Pro400_Glu409del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296088_153296117del30 |
Mutation type | in-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1162_1191del30 | p.Pro388_Glu397del | Female | Rett syndrome-classical | 2951 | 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 |
2 | c.1162_1191del30 | p.Pro388_Glu397del | Female | Rett syndrome-not certain | 3314 | 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 |