Variant information



Systematic Name c.378-109A>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.378-109A>G intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-Atypical 4349
2 c.378-109A>G intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-Atypical 4350
3 c.378-109A>G intronic variation intronic variation intronic Polymorphism not causing disease Female Not Rett synd. 4390