Proband information


Proband id 3510
Systematic Name
(NM_004992.3:)
c.1157_1187del31
Protein name
(NP_004983)
p.Leu386fs
Alternate systematic Name
(NM_001110792.1:)
c.1193_1223del31
Alternate Protein name
(NP_001104262)
p.(Leu398Profs*13)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296092_153296122del31
Mutation type frameshift insertion or deletion
Domain C-term
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.1157_1187del31 p.Leu386fs Unknown Rett syndrome-Not certain 258 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, CÚcile, Jonveaux, Philippe:Human genetics: 11214906
2 c.1157_1187del31 p.Leu386fs Female Rett syndrome-not certain 3510 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