Variant information



Systematic Name c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA
Protein name p.Pro389*
Mutation type in-frame 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.1164_1184delinsCTGAGCCCCAGGACTTGAGCA p.Pro389* frameshift combined insertion and deletion C-term Mutation associated with disease Female Not Rett synd. 5301
2 c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA p.Pro389* in-frame insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 4821