Variant information


Systematic Name MECP2_e1: c.1225G>A
Protein name p.Glu409Lys
Mutation type missense
Domain C-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 Female
Sporadic/Familial
Phenotype-class Not Rett synd.-not certain
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.1225G>A p.Glu409Lys missense C-term Polymorphism not causing disease Female Not Rett synd. 6905 :::