Variant information



Systematic Name c.-168-?_26+?del (deletion exons 1 and 2)
Protein name p.Met1?
Mutation type exon deletions
Domain N-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.-168-?_26+?del (deletion exons 1 and 2) p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-congenital 4600