Variant information



Systematic Name c.538A>T
Protein name p.Lys180*
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.538A>T p.Lys180* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3199