Variant information



Systematic Name c.[378-74C>T];[378-74C>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.[378-74C>T];[378-74C>T] intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-Classical 4337