Variant information



Systematic Name c.27-?_(378_1461)del
Protein name p.Arg9fs
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.27-?_(378_1461)del p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-Classical 2081
2 c.27-?_(378_1461)del p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-Classical 2082