Variant information



Systematic Name c.378-241C>T
Protein name intronic variation
Mutation type Intronic variation
Domain Intronic
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.378-241C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Female Rett syndrome-Classical 1433