Variant information



Systematic Name c.598A>T
Protein name p.Lys200*
Mutation type Nonsense
Domain Inter-domain region
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.598A>T p.Lys200* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 430
2 c.598A>T p.Lys200* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1862