Variant information



Systematic Name c.410A>G
Protein name p.Glu137Gly
Mutation type Missense
Domain MBD
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 c.410A>G p.Glu137Gly Missense MBD Mutation associated with disease Male Not Rett synd. 1012