Variant information



Systematic Name c.730C>T
Protein name p.Gln244*
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.730C>T p.Gln244* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 31
2 c.730C>T p.Gln244* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2192
3 c.730C>T p.Gln244* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2193
4 c.730C>T p.Gln244* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6583