Variant information



Systematic Name c.1193A>C
Protein name
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.1193A>C missense C-term Polymorphism not causing disease Male Not Rett synd. 6910