Variant information



Systematic Name c.76delC
Protein name p.Leu26fs
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.76delC p.Leu26fs Frameshift insertion or deletion N-term Mutation associated with disease Unknown Rett syndrome-Classical 878
2 c.76delC p.Leu26fs frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-classical 3383