Variant information



Systematic Name c.631-?_657+?del
Protein name p.?
Mutation type exonic 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.631-?_657+?del p.? exonic deletion MBD Mutation associated with disease Female Rett syndrome-classical 3786