Variant information


Systematic Name c.[750C>T(;)1459T>C]
Protein name p.[Arg250Arg(;)*487Argext27]
Mutation type Silent, nonstop
Domain TRD, C-term
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Unaffected mother has 750C>T polymorphism
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[750C>T(;)1459T>C] p.[Arg250Arg(;)*487Argext27] Silent, nonstop TRD, C-term Unknown 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