Variant information


Systematic Name
(NM_004992.3:)		 c.[802C>T(;) 808C>T]
Protein name
(NP_004983)		 p.[Arg268Trp(;) Arg270*]
Alternate systematic Name
(NM_001110792.1:)		 c.[838C>T;844C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296477G>A;153296471G>A]
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