Variant information



Systematic Name MECP2_e1: c.1453G>C
Protein name
Mutation type missense
Domain C-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.1453G>C missense C-term Unknown Male Not Rett synd. 6901