Variant information



Systematic Name c.[905C>T;917G>A]
Protein name p.[Pro302Leu;Arg306His]
Mutation type missense
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.[905C>T;917G>A] p.[Pro302Leu;Arg306His] missense TRD Mutation associated with disease Female Rett syndrome-not certain 5240