Proband information


Proband id 3519
Systematic Name
(NM_004992.3:)		 c.894_1095del202
Protein name
(NP_004983)		 p.Glu298fs
Alternate systematic Name
(NM_001110792.1:)		 c.930_1131del202
Alternate Protein name
(NP_001104262)		 p.(Glu310Aspfs*44)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296184_153296385del202
Mutation type frameshift insertion or deletion
Domain TRD
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.894_1095del202 p.Glu298fs Female Rett syndrome-not certain 3519 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