Variant information



Systematic Name c.855_859del5ins12
Protein name p.Ala287Lysfs*46
Mutation type combined frameshift 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.855_859del5ins12 p.Ala287Lysfs*46 combined frameshift insertion and deletion C-term Mutation associated with disease Female Rett syndrome-not certain 5253