Variant information



Systematic Name c.992A>G
Protein name p.Lys331Arg
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.992A>G p.Lys331Arg missense C-term Polymorphism not causing disease Female Rett syndrome-congenital 4593
2 c.992A>G p.Lys331Arg missense C-term Polymorphism not causing disease Male Not Rett synd. 4594