Proband information


Proband id 3518
Systematic Name
(NM_004992.3:)		 c.[641_653del13; 711_1309del599]
Protein name
(NP_004983)		 p.Glu214_Gln437delinsGlySerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyGlu
Alternate systematic Name
(NM_001110792.1:)		 c.[677_689del13;747_1345del599]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296626_153296638del13;153295970_153296568del599]
Mutation type in-frame 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.[641_653del13; 711_1309del599] p.Glu214_Gln437delinsGlySerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyGlu Female Rett syndrome-not certain 3518 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