Variant information


Systematic Name c.1162_1163delinsTA
Protein name p.Pro388*
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection SSCP
Extent exons2-4
Number of chromosomes checked 140 chromosomes tested and not found in 140 chromosomes
Carrier status checked Yes
Carrier result negative in parents
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-sporadic mental retardation
Reference Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1162_1163delinsTA p.Pro388* frameshift combined insertion and deletion C-term Mutation associated with disease Female Not Rett synd. 2659 Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248