Variant information


Systematic Name
(NM_004992.3:)		 c.[880C>T(;)1233C>T]
Protein name
(NP_004983)		 p.[Arg294*(;)Ser411Ser]
Alternate systematic Name
(NM_001110792.1:)		 c.[916C>T;1269C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296399G>A;153296046G>A]
Mutation type nonsense, silent
Domain TRD, C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[880C>T(;)1233C>T] p.[Arg294*(;)Ser411Ser] Female Rett syndrome-Classical 4342 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