Variant information



Systematic Name c.27-?_1018+?del
Protein name p.Arg9fs
Mutation type exonic deletions
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-?_1018+?del p.Arg9fs exonic deletions N-term Mutation associated with disease Female Rett syndrome-classical 3772
2 c.27-?_1018+?del p.Arg9fs exonic deletions N-term Mutation associated with disease Female Rett syndrome-atypical 3773
3 c.27-?_1018+?del p.Arg9fs exonic deletions N-term Mutation associated with disease Female Rett syndrome-classical 3774