Variant information



Systematic Name c.117dupA
Protein name p.Glu40fs
Mutation type frameshift insertion or deletion
Domain N-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.117dupA p.Glu40fs frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-not certain 3256