Proband information
Proband id | 3507 |
---|---|
Systematic Name (NM_004992.3:) |
c.1057_1219del163 |
Protein name (NP_004983) |
p.Gly353fs |
Alternate systematic Name (NM_001110792.1:) |
c.1093_1255del163 |
Alternate Protein name (NP_001104262) |
p.(Gly365Thrfs*2) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296060_153296222del163 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
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.1057_1219del163 | p.Gly353fs | Female | Rett syndrome-classical | 2949 | 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.1057_1219del163 | p.Gly353fs | Female | Rett syndrome-not certain | 3507 | 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 |