Variant information



Systematic Name c.[276_277insG(;) 1162_1179del18]
Protein name p.[Pro94fs(;) Pro388_Pro393del]
Mutation type frameshift insertion or deletion, in-frame insertion or deletion
Domain MBD, 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.[276_277insG(;) 1162_1179del18] p.[Pro94fs(;) Pro388_Pro393del] frameshift insertion or deletion, in-frame insertion or deletion MBD, C-term Mutation associated with disease Female Rett syndrome-not certain 4713