Variant information



Systematic Name c.378-?_1185+?del
Protein name p.Asn126fs
Mutation type exon 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.378-?_1185+?del p.Asn126fs exon deletion MBD Mutation associated with disease Female Rett syndrome-classical 2788