Variant information



Systematic Name c.1158_1186del29insCCA
Protein name p.Pro387Hisfs*9
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.1158_1186del29insCCA p.Pro387Hisfs*9 frameshift combined insertion and deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3610