Variant information



Systematic Name c.[184-?_1065+?del; *5338_*5361+?del]
Protein name p.?
Mutation type exonic deletions
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.[184-?_1065+?del; *5338_*5361+?del] p.? exonic deletions C-term Mutation associated with disease Female Rett syndrome-classical 5140