Variant information



Systematic Name c.[535C>T(;) 763C>T]
Protein name p.[Pro179Ser(;) Arg255*]
Mutation type missense, nonsense
Domain inter-domain region, TRD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[535C>T(;) 763C>T] p.[Pro179Ser(;) Arg255*] missense, nonsense inter-domain region, TRD Unknown Female Rett syndrome-classical 4795