Proband information
Proband id | 933 |
---|---|
Systematic Name (NM_004992.3:) |
c.1194_1195insT |
Protein name (NP_004983) |
p.Pro399fs |
Alternate systematic Name (NM_001110792.1:) |
c.1230_1231insT |
Alternate Protein name (NP_001104262) |
p.(Pro411Serfs*6) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296084_153296085insA |
Mutation type | Frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | |
Extent | Exons 2-4 |
Source of DNA | |
Carrier | Y |
Carrier result | Neither parent has variation |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-Classical |
Reference | MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1194_1195insT | p.Pro399fs | Female | Neither parent has variation | Rett syndrome-Classical | 933 | MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 |
2 | c.1194_1195insT | p.Pro399fs | Female | Not Known | 1670 | :Friez, Michael:: | |
3 | c.1194_1195insT | p.Pro399fs | Female | Rett syndrome-classical | 2953 | 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 |