Variant information


Systematic Name c.1135_1142delCCCGTGCC
Protein name p.Pro379fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent Exons 2-4
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result Variation not found in unaffected sister or mother, father not available
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Sporadic mental retardation
Reference Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion:Konrad Oexle, Barbara Thamm-Mücke, Thomas Mayer, Sigrid Tinschert:European Journal of Pediatrics: 15558314

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1135_1142delCCCGTGCC p.Pro379fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 2000 Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion:Konrad Oexle, Barbara Thamm-Mücke, Thomas Mayer, Sigrid Tinschert:European Journal of Pediatrics: 15558314