Variant information



Systematic Name c.[27-?_1000+?dup(;)1100_1188del89]
Protein name p.[?(;)His367fs]
Mutation type complex rearrangement, frameshift insertion or deletion
Domain MBD, 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.[27-?_1000+?dup(;)1100_1188del89] p.[?(;)His367fs] complex rearrangement, frameshift insertion or deletion MBD, C-term Mutation associated with disease Female Rett syndrome-classical 3855