Variant information



Systematic Name c.248-?_320+?del (exon 3 deletion)
Protein name p.?
Mutation type in-frame 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.248-?_320+?del (exon 3 deletion) p.? in-frame insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 4806