Variant information



Systematic Name c.622C>T
Protein name p.Gln208*
Mutation type Nonsense
Domain TRD
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.622C>T p.Gln208* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1449