Variant information



Systematic Name c.1044-?_1442+?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.1044-?_1442+?del p.? exonic deletions C-term Mutation associated with disease Female Rett syndrome-atypical 5138
2 c.1044-?_1442+?del p.? exonic deletions C-term Mutation associated with disease Female Rett syndrome-atypical 5139