Variant information



Systematic Name c.1145_1194del50
Protein name p.Leu382fs
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.1145_1194del50 p.Leu382fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Classical 914
2 c.1145_1194del50 p.Leu382fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3358