Proband information
| Proband id | 7012 |
|---|---|
| Systematic Name (NM_004992.3:) |
c.473C > T |
| Protein name (NP_004983) |
p.Thr158Met |
| Alternate systematic Name (NM_001110792.1:) |
c.509C>T |
| Alternate Protein name (NP_001104262) |
p.(Thr170Met) |
| Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296806G>A |
| Mutation type | missense |
| Domain | MBD |
| Pathogenicity | Mutation associated with disease |
| Evidence of Pathogenicity | |
| Detection | Direct |
| Extent | |
| Source of DNA | blood |
| Carrier | |
| Carrier result | |
| Other mutations | |
| X-inactivation results | |
| X-inactivation relatives | |
| Gender | Female |
| Sporadic/Familial | sporadic |
| Phenotype-class | Rett syndrome-classical |
| Reference | Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome:Huong Le Thi Thanh , Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong and Liem Nguyen Thanh:BMC Medical Genetics: 30081849 |
Matching entries in the proband database
| No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
|---|---|---|---|---|---|---|---|
| 1 | c.473C > T | p.Thr158Met | Female | Rett syndrome-classical | 7010 | Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome:Huong Le Thi Thanh , Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong and Liem Nguyen Thanh:BMC Medical Genetics: 30081849 | |
| 2 | c.473C > T | p.Thr158Met | Female | Rett syndrome-classical | 7011 | Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome:Huong Le Thi Thanh , Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong and Liem Nguyen Thanh:BMC Medical Genetics: 30081849 | |
| 3 | c.473C > T | p.Thr158Met | Female | Rett syndrome-classical | 7012 | Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome:Huong Le Thi Thanh , Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong and Liem Nguyen Thanh:BMC Medical Genetics: 30081849 | |
| 4 | c.473C > T | p.Thr158Met | Female | Rett syndrome-classical | 7013 | Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome:Huong Le Thi Thanh , Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong and Liem Nguyen Thanh:BMC Medical Genetics: 30081849 |
The construction, maintenance and upgrade of RettBASE have been made possible by the very generous financial support of the RettSyndrome.org, formerly International Rett Syndrome Foundation.
To cite RettBASE, please use :
Krishnaraj R, Ho G, Christodoulou J. 2017. RettBASE: Rett syndrome database update. Hum Mutat 2017;00:1-10. Pubmed: 28544139
orChristodoulou J, Grimm A, Maher T, Bennetts B. 2003. RettBASE: The IRSA MECP2 Variation Database - A New Mutation Database in Evolution. Hum Mutat 21:466-472. Pubmed: 12673788
orRettBASE: RettSyndrome.org Variation Database mecp2.chw.edu.au
The RettBASE databases and website are curated and maintained by Prof. John Christodoulou and Rahul Krishnaraj, Western Sydney Genetics Program, Children's Hospital Westmead, formerly with Andrew Grimm. We thank our collaborators for their input and support for this project.
This website is best viewed using Firefox v22.0 or above.
Copyright © Western Sydney Genetics Program, Children's Hospital Westmead, 2014
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