Variant information



Systematic Name MECP2_e1: c.49G>A
Protein name MeCP2_e1: p.E17K
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.49G>A MeCP2_e1: p.E17K missense N-term Unknown Female Not Rett synd. 2563