Variant information



Systematic Name c.215dupC
Protein name p.Ala73fs
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.215dupC p.Ala73fs frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-classical 2930