Variant information



Systematic Name c.1156_1172del17
Protein name p.Leu386*
Mutation type frameshift insertion or deletion
Domain C-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.1156_1172del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 936
2 c.1156_1172del17 p.Leu386* frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3296