Proband information
Proband id | 50 |
---|---|
Systematic Name (NM_004992.3:) |
c.316C>T |
Protein name (NP_004983) |
p.Arg106Trp |
Alternate systematic Name (NM_001110792.1:) |
c.352C>T |
Alternate Protein name (NP_001104262) |
p.(Arg118Trp) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297719G>A |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Not certain |
Reference | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 6 | :Bunyan, D.:: | |
2 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 10 | :Bunyan, D.:: | |
3 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 49 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | |
4 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 50 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | |
5 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 51 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | |
6 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 52 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | |
7 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 53 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | |
8 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 54 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | |
9 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 55 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | |
10 | c.316C>T | p.Arg106Trp | Female | Variation not found in parents | Rett syndrome-Not certain | 104 | Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 |
11 | c.316C>T | p.Arg106Trp | Female | Variation not found in parents | Rett syndrome-Classical | 154 | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 |
12 | c.316C>T | p.Arg106Trp | Female | No unaffected relatives found to have disease-causing mutations | Rett syndrome-Not certain | 191 | Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689 |
13 | c.316C>T | p.Arg106Trp | Unknown | Rett syndrome-Not certain | 224 | 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 | |
14 | c.316C>T | p.Arg106Trp | Unknown | Rett syndrome-Not certain | 225 | 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 | |
15 | c.316C>T | p.Arg106Trp | Unknown | Rett syndrome-Not certain | 226 | 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 | |
16 | c.316C>T | p.Arg106Trp | Unknown | Rett syndrome-Not certain | 227 | 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 | |
17 | c.316C>T | p.Arg106Trp | Female | Neither parent is carrier | Rett syndrome-Not certain | 262 | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 |
18 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Classical | 289 | MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 | |
19 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Classical | 290 | MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 | |
20 | c.316C>T | p.Arg106Trp | Female | Brain sample | Rett syndrome-Not certain | 368 | ::: |
21 | c.316C>T | p.Arg106Trp | Female | Mother is not carrier | Rett syndrome-Classical | 370 | ::: |
22 | c.316C>T | p.Arg106Trp | Female | Not Known | 424 | ::: | |
23 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Atypical | 456 | ::: | |
24 | c.316C>T | p.Arg106Trp | Unknown | Rett syndrome-Classical | 879 | ::: | |
25 | c.316C>T | p.Arg106Trp | Unknown | Rett syndrome-Not certain | 864 | Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 | |
26 | c.316C>T | p.Arg106Trp | Unknown | Rett syndrome-Not certain | 863 | Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 | |
27 | c.316C>T | p.Arg106Trp | Female | Not present in mother, present in affected half-sister | Rett syndrome-Not certain | 846 | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514 |
28 | c.316C>T | p.Arg106Trp | Female | Not present in mother, present in affected half-sister | Rett syndrome-Not certain | 845 | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514 |
29 | c.316C>T | p.Arg106Trp | Unknown | Rett syndrome-Classical | 844 | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514 | |
30 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 1027 | 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 | |
31 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 1028 | 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 | |
32 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 1029 | 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 | |
33 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 1145 | MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Belaïd, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, Valérie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684 | |
34 | c.316C>T | p.Arg106Trp | Female | Neither parent has variation | Rett syndrome-Classical | 1223 | MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283 |
35 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 1242 | Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 | |
36 | c.316C>T | p.Arg106Trp | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1273 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
37 | c.316C>T | p.Arg106Trp | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1274 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
38 | c.316C>T | p.Arg106Trp | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1275 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
39 | c.316C>T | p.Arg106Trp | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1276 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
40 | c.316C>T | p.Arg106Trp | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1277 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
41 | c.316C>T | p.Arg106Trp | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1278 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
42 | c.316C>T | p.Arg106Trp | Female | Neither parent has variation | Rett syndrome-Not certain | 1376 | 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 |
43 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Classical | 1437 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | |
44 | c.316C>T | p.Arg106Trp | Female | Neither parent has variation | Rett syndrome-Not certain | 1482 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 |
45 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 1612 | :Bunyan, D.:: | |
46 | c.316C>T | p.Arg106Trp | Female | Neither parent has variation | Rett syndrome-Not certain | 1625 | :Bunyan, D.:: |
47 | c.316C>T | p.Arg106Trp | Female | Not Known | 1682 | :Friez, Michael:: | |
48 | c.316C>T | p.Arg106Trp | Female | Not Known | 1699 | :Friez, Michael:: | |
49 | c.316C>T | p.Arg106Trp | Female | Not Known | 1727 | :Friez, Michael:: | |
50 | c.316C>T | p.Arg106Trp | Female | Not Known | 1752 | :Friez, Michael:: | |
51 | c.316C>T | p.Arg106Trp | Female | Not Known | 1792 | :Friez, Michael:: | |
52 | c.316C>T | p.Arg106Trp | Female | Not Known | 1801 | :Friez, Michael:: | |
53 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 1878 | ::: | |
54 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 1879 | ::: | |
55 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 1880 | ::: | |
56 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Not certain | 1881 | ::: | |
57 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 1924 | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 | |
58 | c.316C>T | p.Arg106Trp | Female | Not Known | 2023 | ::: | |
59 | c.316C>T | p.Arg106Trp | Female | Not Known | 2067 | ::: | |
60 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Classical | 2197 | :Cardiff, UK:: | |
61 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Atypical | 2198 | :Cardiff, UK:: | |
62 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Classical | 2199 | :Cardiff, UK:: | |
63 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Classical | 2200 | :Cardiff, UK:: | |
64 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Classical | 2201 | :Cardiff, UK:: | |
65 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Atypical | 2202 | :Cardiff, UK:: | |
66 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Classical | 2203 | :Cardiff, UK:: | |
67 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Atypical | 2204 | :Cardiff, UK:: | |
68 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Atypical | 2205 | :Cardiff, UK:: | |
69 | c.316C>T | p.Arg106Trp | Female | Researcher claims neither parent has variation | Rett syndrome-Forme fruste | 2419 | ::: |
70 | c.316C>T | p.Arg106Trp | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2438 | Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885 |
71 | c.316C>T | p.Arg106Trp | Female | Researcher claims neither parent has variation | Rett syndrome-Preserved speech | 2470 | Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885 |
72 | c.316C>T | p.Arg106Trp | Female | parents negative | Rett syndrome-Classical | 2565 | 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 |
73 | c.316C>T | p.Arg106Trp | Female | parents negative | Rett syndrome-Classical | 2566 | 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 |
74 | c.316C>T | p.Arg106Trp | Female | parents negative | Rett syndrome-Classical | 2567 | 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 |
75 | c.316C>T | p.Arg106Trp | Female | parents negative | Rett syndrome-Classical | 2568 | 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 |
76 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Classical | 2569 | 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 | |
77 | c.316C>T | p.Arg106Trp | Female | de novo | Rett syndrome-classical | 3036 | MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 |
78 | c.316C>T | p.Arg106Trp | Female | de novo | Rett syndrome-classical | 3037 | MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 |
79 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3067 | 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 | |
80 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3087 | 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 | |
81 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3088 | 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 | |
82 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3089 | 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 | |
83 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3090 | 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 | |
84 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3091 | 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 | |
85 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3092 | 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 | |
86 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3093 | 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 | |
87 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3094 | 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 | |
88 | c.316C>T | p.Arg106Trp | Female | de novo | Rett syndrome-classical | 3382 | MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 |
89 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 3395 | Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 | |
90 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3419 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | |
91 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3420 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | |
92 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3421 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | |
93 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3422 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | |
94 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3423 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | |
95 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 3424 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | |
96 | c.316C>T | p.Arg106Trp | Female | de novo | Rett syndrome-not certain | 3523 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
97 | c.316C>T | p.Arg106Trp | Female | de novo | Rett syndrome-not certain | 3524 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
98 | c.316C>T | p.Arg106Trp | Female | de novo | Rett syndrome-classical | 3628 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
99 | c.316C>T | p.Arg106Trp | Female | de novo | Rett syndrome-classical | 3629 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
100 | c.316C>T | p.Arg106Trp | Female | de novo | Rett syndrome-classical | 3630 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
101 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 3803 | Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorder:Wong, V.C.N., Li, S.Y.H.:Journal of Child Neurology: 18174559 | |
102 | c.316C>T | p.Arg106Trp | Female | Not Known | 4135 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
103 | c.316C>T | p.Arg106Trp | Female | Not Known | 4136 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
104 | c.316C>T | p.Arg106Trp | Female | Not Known | 4137 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
105 | c.316C>T | p.Arg106Trp | Female | Not Known | 4138 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
106 | c.316C>T | p.Arg106Trp | Female | Not Known | 4139 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | |
107 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Classical | 4227 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | |
108 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Classical | 4228 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | |
109 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-Atypical | 4229 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | |
110 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 4315 | 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 | |
111 | c.316C>T | p.Arg106Trp | Female | Not Known | 4427 | :Das, S., Dempsey, M. U. Chicago:: | |
112 | c.316C>T | p.Arg106Trp | Female | Not Known | 4428 | :Das, S., Dempsey, M. U. Chicago:: | |
113 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 4728 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | |
114 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 4729 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | |
115 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 4808 | Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873 | |
116 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 4828 | 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 | |
117 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 4829 | 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 | |
118 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 4830 | 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 | |
119 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 4831 | 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 | |
120 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 4904 | Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991 | |
121 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-not certain | 5054 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | |
122 | c.316C>T | p.Arg106Trp | Female | Not Rett synd. | 6574 | ::: | |
123 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 6573 | ::: | |
124 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 6572 | ::: | |
125 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 6571 | ::: | |
126 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 6570 | ::: | |
127 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 6569 | ::: | |
128 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 6568 | ::: | |
129 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 6567 | ::: | |
130 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 6566 | ::: | |
131 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 6565 | ::: | |
132 | c.316C>T | p.Arg106Trp | Female | Rett syndrome-classical | 6564 | ::: | |
133 | c.316C>T | p.Arg106Trp | Male | Not Rett synd. | 7031 | MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka :Brain & Development: 29631775 | |
134 | c.316C>T | p.Arg106Trp | Male | Father,mother negative | Not Rett synd. | 7040 | MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka :Brain & Development: 29631775 |