Variant information
Systematic Name (NM_004992.3:) |
c.1164_1207del44 |
---|---|
Protein name (NP_004983) |
p.Proro389* |
Alternate systematic Name (NM_001110792.1:) |
c.1200_1243del44 |
Alternate Protein name (NP_001104262) |
p.(Pro401*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296072_153296115del44 |
Mutation type | nonsense |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Not certain | 14 | :Bunyan, D.:: | View details |
2 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Not certain | 22 | :Bunyan, D.:: | View details |
3 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Preserved speech | 349 | Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 | View details |
4 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Not certain | 1121 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
5 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Not certain | 1594 | :Bunyan, D.:: | View details |
6 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Not certain | 1611 | :Bunyan, D.:: | View details |
7 | c.1164_1207del44 | p.Pro389* | Female | Not Known | 1693 | :Friez, Michael:: | View details |
8 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Not certain | 1848 | :Bunyan, D.:: | View details |
9 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Classical | 2184 | :Cardiff, UK:: | View details |
10 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Classical | 2185 | :Cardiff, UK:: | View details |
11 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Atypical | 2186 | :Cardiff, UK:: | View details |
12 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Atypical | 2187 | :Cardiff, UK:: | View details |
13 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Atypical | 2188 | :Cardiff, UK:: | View details |
14 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Atypical | 2189 | :Cardiff, UK:: | View details |
15 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Classical | 2190 | :Cardiff, UK:: | View details |
16 | c.1164_1207del44 | p.Pro389* | Female | Not Known | 2487 | Very mild cases of Rett syndrome with skewed X inactivation:Peter Huppke, Esther M Maier, Andreas Warnke, Cornelia Brendel, Franco Laccone and Jutta Gärtner:Journal of Medical Genetics: 16690727 | View details |
17 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Classical | 2627 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | View details |
18 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Classical | 2628 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | View details |
19 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-Classical | 2629 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | View details |
20 | c.1164_1207del44 | p.Pro389* | Male | Rett syndrome-male variant | 2755 | MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother:Dayer, A.G., Bottani, A., Bouchardy, I., Fluss, J., Antonarakis, S.E., Haenggeli, C.-A., Morris, M.A.:Brain & Development: 16844334 | View details |
21 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-preserved speech | 2884 | Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523 | View details |
22 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-forme fruste | 2885 | Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523 | View details |
23 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-classical | 3011 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 | View details |
24 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-not certain | 3065 | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 | View details |
25 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-not certain | 3066 | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 | View details |
26 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-not certain | 3315 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
27 | c.1164_1207del44 | p.Pro389* | Female | Not Rett synd. | 3982 | MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother:Dayer, A.G., Bottani, A., Bouchardy, I., Fluss, J., Antonarakis, S.E., Haenggeli, C.-A., Morris, M.A.:Brain & Development: 16844334 | View details |
28 | c.1164_1207del44 | p.Pro389* | Female | Not Rett synd. | 5300 | Brief report: MECP2 mutations in people without Rett syndrome:Suter, B., Treadwell-Deering, D., Zoghbi, H.Y., Glaze, D.G., Neul, J.L.:J Autism Dev Disord: 23921973 | View details |
29 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-not certain | 4308 | Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677 | View details |
30 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-not certain | 4316 | Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677 | View details |
31 | c.1164_1207del44 | p.Pro389* | Male | Not Known | 4417 | :Das, S., Dempsey, M. U. Chicago:: | View details |
32 | c.1164_1207del44 | p.Pro389* | Female | Not Known | 4418 | :Das, S., Dempsey, M. U. Chicago:: | View details |
33 | c.1164_1207del44 | p.Pro389* | Female | Not Rett synd. | 4790 | Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026 | View details |
34 | c.1164_1207del44 | p.Pro389* | Female | Not Rett synd. | 4791 | Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026 | View details |
35 | c.1164_1207del44 | p.Pro389* | Male | Not Rett synd. | 4792 | Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026 | View details |
36 | c.1164_1207del44 | p.Pro389* | Male | Not Rett synd. | 4793 | Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026 | View details |
37 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-classical | 4794 | Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026 | View details |
38 | c.1164_1207del44 | p.Pro389* | Female | Not Rett synd. | 4856 | MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 | View details |
39 | c.1164_1207del44 | p.Proro389* | Female | Rett syndrome-preserved speech | 6758 | 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 | View details |
40 | c.1164_1207del44 | p.Proro389* | Female | Rett syndrome-classical | 6757 | 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 | View details |
41 | c.1164_1207del44 | p.Proro389* | Female | Rett syndrome-atypical | 6756 | 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 | View details |
42 | c.1164_1207del44 | p.Proro389* | Female | Not Known | 6755 | 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 | View details |
43 | c.1164_1207del44 | p.Pro389* | Male | Not Rett synd. | 6673 | ::: | View details |
44 | c.1164_1207del44 | p.Pro389* | Female | Not Rett synd. | 6674 | ::: | View details |
45 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-forme fruste | 6664 | ::: | View details |
46 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-classical | 6663 | ::: | View details |
47 | c.1164_1207del44 | p.Pro389* | Female | Not Rett synd. | 6662 | ::: | View details |
48 | c.1164_1207del44 | p.Pro389* | Female | Rett syndrome-classical | 6661 | ::: | View details |