Variant information



Systematic Name c.1336-?_*?del
Protein name p.?
Mutation type frameshift insertion or deletion
Domain N-term/MBD/interdomain/TRD/NLS/C-term
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.1336-?_*?del p.? frameshift insertion or deletion N-term/MBD/interdomain/TRD/NLS/C-term Mutation associated with disease Female Rett syndrome-classical 2790