Proband information



Proband id 3019
Systematic Name c.1415_1416delAG
Protein name p.Glu472fs
Mutation type frameshift insertion ord deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-X-linked mental retardation
Reference De novo MECP2 framshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia:Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BBA, Hamel BCJ:Clinical Genetics: 12081720

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.1415_1416delAG p.Glu472fs frameshift insertion ord deletion C-term Mutation associated with disease Male Not Rett synd. 3019 De novo MECP2 framshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia:Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BBA, Hamel BCJ:Clinical Genetics: 12081720