Variant information



Systematic Name c.1152_1292del141
Protein name p.Pro385_Lys431del
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.1152_1292del141 p.Pro385_Lys431del in-frame insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6657