Variant information



Systematic Name c.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10]
Protein name p.[Ala378fs];[Ala378fs]
Mutation type 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.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10] p.[Ala378fs];[Ala378fs] frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 2544