Variant information



Systematic Name c.439G>A
Protein name p.Asp147Asn
Mutation type missense
Domain MBD
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.439G>A p.Asp147Asn missense MBD Polymorphism not causing disease Female Not Rett synd. 4044