Variant information


Systematic Name c.1061G>T
Protein name p.Arg354Leu
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA Blood
Detection direct
Extent Exons 2-4
Evidence of Pathogenicity
Carrier status checked NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Unaffected family member
Reference Unusual observations associated with novel C-terminal MECP2 mutations:Konrad Oexle, Barbara Thamm-Mücke, Andrea Bier, Sigrid Tinschert::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1061G>T p.Arg354Leu Missense C-term Polymorphism not causing disease Male Not Rett synd. 2003 Unusual observations associated with novel C-terminal MECP2 mutations:Konrad Oexle, Barbara Thamm-Mücke, Andrea Bier, Sigrid Tinschert::