Variant information



Systematic Name c.[455C>G(;)683C>G]
Protein name p.[Pro152Arg(;)Thr228Ser]
Mutation type missense
Domain MBD, 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.[455C>G(;)683C>G] p.[Pro152Arg(;)Thr228Ser] missense MBD, TRD Mutation associated with disease Female Rett syndrome-classical 3910