Variant information



Systematic Name c.1-?dup
Protein name p.Met1?
Mutation type large duplication
Domain N-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1-?dup p.Met1? large duplication N-term Unknown Female Rett syndrome-not certain 3253