Variant information



Systematic Name c.1154_1185del32
Protein name p.Pro385fs
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.1154_1185del32 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Male Rett syndrome-Male variant 38