Variant information



Systematic Name c.[378-74C>T;602C>T];[378-74C>T]
Protein name p.[Ala201Val];[=]
Mutation type Intronic variation, missense
Domain Intronic, inter-domain region
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;602C>T];[378-74C>T] p.[Ala201Val];[=] Intronic variation, missense Intronic, inter-domain region Polymorphism not causing disease Female Not Rett synd. 2053