Variant information



Systematic Name c.889C>T
Protein name p.Gln297*
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.889C>T p.Gln297* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1421
2 c.889C>T p.Gln297* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1422