Variant information



Systematic Name c.430A>T
Protein name p.Lys144*
Mutation type Nonsense
Domain MBD
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.430A>T p.Lys144* Nonsense MBD Mutation associated with disease Female Rett syndrome-Not certain 1064
2 c.430A>T p.Lys144* nonsense MBD Mutation associated with disease Female Rett syndrome-Classical 2580