Variant information



Systematic Name c.378-70C>G
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.378-70C>G intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5145