Variant information



Systematic Name c.[602C>T(;) 1157_1197del41]
Protein name p.[Ala201Val(;) Leu386fs]
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.[602C>T(;) 1157_1197del41] p.[Ala201Val(;) Leu386fs] frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 4805