Proband information


Proband id 3513
Systematic Name
(NM_004992.3:)
c.1160_1180del21
Protein name
(NP_004983)
p.Pro387_Glu394delinsGln
Alternate systematic Name
(NM_001110792.1:)
c.1196_1216del21
Alternate Protein name
(NP_001104262)
p.(Pro399_Glu406delinsGln)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296099_153296119del21
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Unknown
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.1160_1180del21 p.Pro387_Glu394delinsGln Female Rett syndrome-classical 2952 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
2 c.1160_1180del21 p.Pro387_Glu394delinsGln Female Rett syndrome-not certain 3513 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