Variant information



Systematic Name c.[834C>T(;) 856_859delAAAG(;) 1180G>A]
Protein name p.[Ala278Ala(;) Lys286fs(;) Glu394Lys]
Mutation type silent, frameshift insertion or deletion, missense
Domain TRD, 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.[834C>T(;) 856_859delAAAG(;) 1180G>A] p.[Ala278Ala(;) Lys286fs(;) Glu394Lys] silent, frameshift insertion or deletion, missense TRD, C-term Mutation associated with disease Female Rett syndrome-classical 4397