Variant information



Systematic Name c.1162_1163delinsTA
Protein name p.Pro388*
Mutation type frameshift combined insertion and 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.1162_1163delinsTA p.Pro388* frameshift combined insertion and deletion C-term Mutation associated with disease Female Not Rett synd. 2659