Variant information



Systematic Name c.1163_1200del38
Protein name p.Pro388Glnfs*4
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.1163_1200del38 p.Pro388Glnfs*4 frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-preserved speech 6754