Variant information



Systematic Name MECP2_e1: c.48_55del8
Protein name MeCP2_e1: p.E18Tfs*21
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 MECP2_e1: c.48_55del8 MeCP2_e1: p.E18Tfs*21 frameshift insertion or deletion N-term Mutation associated with disease Female Not Rett synd. 5122