Variant information


Systematic Name c.1157_1187del31
Protein name p.Leu386fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA
Detection
Extent
Evidence of Pathogenicity
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1157_1187del31 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease 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 frameshift insertion or deletion C-term Mutation associated with disease 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