Variant information


Systematic Name MECP2_e1: c.45_47dup
Protein name p.Gly16dup
Mutation type in-frame insertion or deletion
Domain N-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection MPS
Extent
Number of chromosomes checked
Carrier status checked NA
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial not known
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 MECP2_e1: c.45_47dup p.Gly16dup in-frame insertion or deletion N-term Polymorphism not causing disease Male Not Known 6899 :::