Proband information
Proband id | 7009 |
---|---|
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 |
Evidence of Pathogenicity | 100 chromosomes tested and not found in 100 chromosomes |
Detection | Direct |
Extent | |
Source of DNA | blood |
Carrier | Y |
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 | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | [c.695 G > T; c.880C > T] | p.[Gly232Val;Arg294*] | Female | Not found in parents and unaffected sister | 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 |