Variant information



Systematic Name c.[1126C>T];[1126C>T]
Protein name p.[Pro376Ser];[Pro376Ser]
Mutation type Missense
Domain C-term
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.[1126C>T];[1126C>T] p.[Pro376Ser];[Pro376Ser] Missense C-term Polymorphism not causing disease Female Not Rett synd. 1571