Variant information



Systematic Name c.431delA
Protein name p.Lys144fs
Mutation type Frameshift insertion or deletion
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.431delA p.Lys144fs Frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-Classical 331