Variant information


Systematic Name c.225G>A
Protein name p.Pro75Pro
Mutation type silent
Domain N-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA not known
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial not known
Phenotype-class Not Rett synd.-mental retardation
Reference Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.225G>A p.Pro75Pro silent N-term Silent polymorphism Male Not Rett synd. 3020 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644