Variant information



Systematic Name c.[1373G>A; 1448_*29del43]
Protein name p.[Arg458His; Glu483fs]
Mutation type frameshift insertion or deletion, missense
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.[1373G>A; 1448_*29del43] p.[Arg458His; Glu483fs] frameshift insertion or deletion, missense c-term Mutation associated with disease Female Rett syndrome-not certain 3875