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