Variant information

Systematic Name c.26+2T>A
Protein name intronic variation
Mutation type Intronic variation
Domain Intronic
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.26+2T>A intronic variation Intronic variation Intronic Mutation associated with disease Female Rett syndrome-Not certain 1629