Proband information
Proband id | 3513 |
---|---|
Systematic Name (NM_004992.3:) |
c.1160_1180del21 |
Protein name (NP_004983) |
p.Pro387_Glu394delinsGln |
Alternate systematic Name (NM_001110792.1:) |
c.1196_1216del21 |
Alternate Protein name (NP_001104262) |
p.(Pro399_Glu406delinsGln) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296099_153296119del21 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | SSCP, direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Rett syndrome-not certain |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1160_1180del21 | p.Pro387_Glu394delinsGln | Female | Rett syndrome-classical | 2952 | 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 | |
2 | c.1160_1180del21 | p.Pro387_Glu394delinsGln | Female | Rett syndrome-not certain | 3513 | 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 |