Proband information
Proband id | 944 |
---|---|
Systematic Name (NM_004992.3:) |
c.677_678insA |
Protein name (NP_004983) |
p.Phe226fs |
Alternate systematic Name (NM_001110792.1:) |
c.713_714insA |
Alternate Protein name (NP_001104262) |
p.(Phe238Leufs*10) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296601_153296602insT |
Mutation type | Frameshift insertion or deletion |
Domain | TRD |
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.677_678insA | p.Phe226fs | Female | Neither parent has variation | Rett syndrome-Classical | 944 | 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 |