Variant information



Systematic Name MECP2_e1: c.2T>C
Protein name MeCP2_e1: p.M1?
Mutation type missense
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.2T>C MeCP2_e1: p.M1? missense N-term Mutation associated with disease Female Rett syndrome-classical 6343