Variant information

Systematic Name MECP2_e1: c.48C>T (r.48_63del)
Protein name MeCP2_e1: p.Glu17Lysfs*22
Mutation type splicing
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.48C>T (r.48_63del) MeCP2_e1: p.Glu17Lysfs*22 splicing N-term Mutation associated with disease Female Rett syndrome-classical 5233