Variant information



Systematic Name c.[1104_1106del3;1157_1197del41]
Protein name p.[His372del;Leu386fs]
Mutation type in-frame insertion or deletion, frameshift insertion or deletion
Domain 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.[1104_1106del3;1157_1197del41] p.[His372del;Leu386fs] in-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 5244