Variant information


Systematic Name [c.695 G > T; c.880C > T]
Protein name p.[Gly232Val;Arg294*]
Mutation type missense,nonsense
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection Direct
Extent
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result Not found in parents and unaffected sister
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-
Reference First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation:Rania Ghorbel , Raouia Ghorbel , Aida Rouissi , Nourhene Fendri-Kriaa , Ghada Ben Salah , Neila Belguith , Leila Ammar-Keskes , Neziha Gouider-Khouja , Faiza Fakhfakh:Biochemical and Biophysical Research Communications: 29421650

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 [c.695 G > T; c.880C > T] p.[Gly232Val;Arg294*] missense,nonsense TRD Mutation associated with disease Female Rett syndrome- 7009 First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation:Rania Ghorbel , Raouia Ghorbel , Aida Rouissi , Nourhene Fendri-Kriaa , Ghada Ben Salah , Neila Belguith , Leila Ammar-Keskes , Neziha Gouider-Khouja , Faiza Fakhfakh:Biochemical and Biophysical Research Communications: 29421650