Variant information



Systematic Name c.1159_1458del300
Protein name p.Pro387*
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.1159_1458del300 p.Pro387* in-frame insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3312