Variant information


Systematic Name
(NM_004992.3:)		 c.[750C>T(;)1459T>C]
Protein name
(NP_004983)		 p.[Arg250Arg(;)*487Argext27]
Alternate systematic Name
(NM_001110792.1:)		 c.[786C>T;1495T>C]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296529G>A;153295820A>G]
Mutation type Silent, nonstop
Domain TRD, C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[750C>T(;)1459T>C] p.[Arg250Arg(;)*487Argext27] Female Rett syndrome-Classical 1237 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