Variant information



Systematic Name c.184-?_1065+?del
Protein name p.?
Mutation type exonic deletions
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.184-?_1065+?del p.? exonic deletions MBD Mutation associated with disease Female Rett syndrome-classical 5137