Variant information

Systematic Name
Protein name
"intronic variation, p.Thr338Thr"
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type intronic variation, silent
Domain intronic, C-term
Pathogenicity Silent polymorphism

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[377+28A>G(;)1014C>T] "intronic variation, p.Thr338Thr" Female Rett syndrome-Classical 4334 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 View details