Variant information


Systematic Name
(NM_004992.3:)		 [c.695 G > T; c.880C > T]
Protein name
(NP_004983)		 p.[Gly232Val;Arg294*]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type missense,nonsense
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 [c.695 G > T; c.880C > T] p.[Gly232Val;Arg294*] 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 View details