Variant information



Systematic Name c.996C>T
Protein name
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.996C>T p.Ser332Ser silent C-term Silent polymorphism Unknown Not Rett synd. 4614
2 c.996C>T p.Ser332Ser silent C-term Silent polymorphism Female Rett syndrome-atypical 4804
3 c.996C>T silent C-term Silent polymorphism Female Not Rett synd. 6862