Variant information



Systematic Name c.1158_1167del10
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_1167del10 p.Pro387fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 949
2 c.1158_1167del10 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3303