Variant information



Systematic Name c.431A>G
Protein name p.Lys144Arg
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.431A>G p.Lys144Arg missense MBD Polymorphism not causing disease Female Not Rett synd. 5185