Variant information
| Systematic Name | c.*55C>G |
|---|---|
| Protein name | 3'UTR variation |
| Mutation type | 3'UTR variation |
| Domain | 3'UTR |
| Pathogenicity | Polymorphism not causing disease |
Proband information
| Source of DNA | not known |
|---|---|
| Detection | DHPLC |
| Extent | exons2-4 |
| Number of chromosomes checked | 178 chromosomes tested and not found in 177 chromosomes |
| Carrier status checked | N |
| Carrier result | |
| Other mutations | NK |
| X-inactivation results | |
| X-inactivation relatives | |
| Gender | Male |
| Sporadic/Familial | |
| Phenotype-class | Not Rett synd.-normal control |
| Reference | Absence of MECP2 mutations in patients from the South Carolina autism project:Lobo-Menendez, F., Sossey-Alaoui, K., Bell, J.M., Copeland-Yates, S.A., Plank, S.M., Sanford, S.O., Skinner, C., Simensen, R.J., Schroer, R.J., Michaelis, R.C.:American Journal of Medical Genetics Part B: 12555243 |
Matching entries in the proband database
| No: | Systematic Name | Protein name | Mutation type | Domain | Pathogenicity | Gender | Phenotype | Proband id | References |
|---|---|---|---|---|---|---|---|---|---|
| 1 | c.*55C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Unknown | Not Rett synd. | 4215 | Absence of MECP2 mutations in patients from the South Carolina autism project:Lobo-Menendez, F., Sossey-Alaoui, K., Bell, J.M., Copeland-Yates, S.A., Plank, S.M., Sanford, S.O., Skinner, C., Simensen, R.J., Schroer, R.J., Michaelis, R.C.:American Journal of Medical Genetics Part B: 12555243 |
| 2 | c.*55C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Female | Not Rett synd. | 4216 | Absence of MECP2 mutations in patients from the South Carolina autism project:Lobo-Menendez, F., Sossey-Alaoui, K., Bell, J.M., Copeland-Yates, S.A., Plank, S.M., Sanford, S.O., Skinner, C., Simensen, R.J., Schroer, R.J., Michaelis, R.C.:American Journal of Medical Genetics Part B: 12555243 |
| 3 | c.*55C>G | 3'UTR variation | 3'UTR variation | 3'UTR | Polymorphism not causing disease | Male | Not Rett synd. | 4217 | Absence of MECP2 mutations in patients from the South Carolina autism project:Lobo-Menendez, F., Sossey-Alaoui, K., Bell, J.M., Copeland-Yates, S.A., Plank, S.M., Sanford, S.O., Skinner, C., Simensen, R.J., Schroer, R.J., Michaelis, R.C.:American Journal of Medical Genetics Part B: 12555243 |
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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