Variant information



Systematic Name c.1038C>G
Protein name p.Ser346Arg
Mutation type Missense
Domain C-term
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1038C>G p.Ser346Arg Missense C-term Mutation associated with disease Female Rett syndrome-Classical 939