Variant information



Systematic Name MECP2_e1: c.1A>G
Protein name MeCP2_e1: p.M1?
Mutation type missense
Domain N-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 MECP2_e1: c.1A>G MeCP2_e1: p.M1? missense N-term Unknown Female Rett syndrome-not certain 3868