Variant information



Systematic Name c.35_42dup
Protein name p.Asp15fs
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.35_42dup p.Asp15fs Frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-Classical 1458