Variant information



Systematic Name c.1158_1186del29
Protein name p.Pro387fs
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.1158_1186del29 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Preserved speech 1179