Variant information

Systematic Name
Protein name
"intronic variation, p.Thr158Met"
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type intronic variation, missense
Domain intronic, MBD
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[378-74C>T(;)473C>T] "intronic variation, p.Thr158Met" Female Rett syndrome-Atypical 4336 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