Proband information
Proband id | 6873 |
---|---|
Systematic Name (NM_004992.3:) |
c.*9G>A |
Protein name (NP_004983) |
Intronic variation |
Alternate systematic Name (NM_001110792.1:) |
c.*9G>A |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295809C>T |
Mutation type | 3' UTR variation |
Domain | 3' UTR |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | HRM, sequencing |
Extent | |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | NK |
Phenotype-class | Not Rett synd.-mental retardation |
Reference | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.*9G>A | 3'UTR variation | Female | Not Rett synd. | 1386 | Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome:Lam, Ching-Wan, Yeung, Wai-Lan, Ko, Chung-Hung, Poon, Priscilla M K, Tong, Sui-Fan, Chan, Kwok-Yin, Lo, Ivan F M, Chan, Lisa Y S, Hui, Joannie, Wong, Virginia, Pang, Chi-Pui, Lo, Y M Dennis, Fok, Tai-Fai:Journal of Medical Genetics: 11106359 | |
2 | c.*9G>A | 3'UTR variation | Unknown | Rett syndrome-Not certain | 1541 | A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 | |
3 | c.*9G>A | 3'UTR variation | Unknown | Not Rett synd. | 2674 | MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193 | |
4 | c.*9G>A | 3'UTR variation | Female | Rett syndrome-atypical | 3858 | Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation:Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.:Disease Markers: 18688080 | |
5 | c.*9G>A | 3'UTR variation | Unknown | inherited from phenotypically normal mother | Not Rett synd. | 4201 | 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 |
6 | c.*9G>A | 3'UTR variation | Female | found in offspring with autism | Not Rett synd. | 4202 | 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 |
7 | c.*9G>A | 3'UTR variation | Male | Not Rett synd. | 4203 | 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 | |
8 | c.*9G>A | 3'UTR variation | Male | Not Rett synd. | 4204 | 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 | |
9 | c.*9G>A | 3'UTR variation | Male | Not Rett synd. | 4205 | 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 | |
10 | c.*9G>A | 3'UTR variation | Male | Not Rett synd. | 4206 | 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 | |
11 | c.*9G>A | 3'UTR variation | Male | Not Rett synd. | 4207 | 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 | |
12 | c.*9G>A | 3'UTR variation | Male | Not Rett synd. | 4208 | 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 | |
13 | c.*9G>A | 3'UTR variation | Male | Not Rett synd. | 4209 | 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 | |
14 | c.*9G>A | 3'UTR variation | Male | Not Rett synd. | 4210 | 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 | |
15 | c.*9G>A | 3'UTR variation | Male | Not Rett synd. | 4211 | 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 | |
16 | c.*9G>A | 3'UTR variation | Male | Not Rett synd. | 4212 | 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 | |
17 | c.*9G>A | 3'UTR variation | Male | Not Rett synd. | 4213 | 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 | |
18 | c.*9G>A | 3'UTR variation | Male | Not Rett synd. | 4214 | 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 | |
19 | c.*9G>A | Intronic variation | Female | Not Rett synd. | 6873 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 |