Variant information

Systematic Name
c.[802C>T(;) 808C>T]
Protein name
p.[Arg268Trp(;) Arg270*]
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Missense, nonsense
Domain TRD-NLS
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[802C>T(;) 808C>T] p.[Arg268Trp(;) Arg270*] Female Rett syndrome-Classical 1236 MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283 View details