Variant information
Systematic Name (NM_004992.3:) |
c.27-?_*?del |
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Protein name (NP_004983) |
p.Arg9fs |
Alternate systematic Name (NM_001110792.1:) |
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Alternate Protein name (NP_001104262) |
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Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
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Mutation type | exon deletions |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
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1 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-Not certain | 1918 | Evaluation of the Multiplex Ligation-Dependent Probe Amplification (MLPA) technology in the diagnosis of Rett syndrome:Boulanger, S., Mariage, L., Van Maldergem, L., Gillerot, Y. and Hilbert, P.:American journal of human genetics: | View details |
2 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-Not certain | 1919 | Evaluation of the Multiplex Ligation-Dependent Probe Amplification (MLPA) technology in the diagnosis of Rett syndrome:Boulanger, S., Mariage, L., Van Maldergem, L., Gillerot, Y. and Hilbert, P.:American journal of human genetics: | View details |
3 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-Classical | 2071 | :Cardiff, UK:: | View details |
4 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-Classical | 2072 | :Cardiff, UK:: | View details |
5 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-Atypical | 2077 | :Cardiff, UK:: | View details |
6 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-Classical | 2078 | :Cardiff, UK:: | View details |
7 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-Classical | 2079 | :Cardiff, UK:: | View details |
8 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-Classical | 2080 | :Cardiff, UK:: | View details |
9 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-Atypical | 2500 | Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene:D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger and G Mátyás:Clinical Genetics: 16630165 | View details |
10 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-Classical | 2535 | Large Genomic Rearrangements in MECP2:Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, and Marianne Schwartz:Human mutation: 15712379 | View details |
11 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-Classical | 2536 | Large Genomic Rearrangements in MECP2:Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, and Marianne Schwartz:Human mutation: 15712379 | View details |
12 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-Classical | 2537 | Large Genomic Rearrangements in MECP2:Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, and Marianne Schwartz:Human mutation: 15712379 | View details |
13 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-classical | 2789 | Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome:Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.:Clinical Genetics: 17026625 | View details |
14 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-classical | 2791 | Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome:Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.:Clinical Genetics: 17026625 | View details |
15 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-classical | 2904 | Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome:Schollen, E., Smeets, E., Deflem, E., Fryns, J.P., Matthijs, G.:Human Mutation: 12872251 | View details |
16 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-classical | 2908 | Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients:Erlandson, A., Samuelsson, L., Hagberg, B., Kyllerman, M., Vujic, M., Wahlström, J.:Genetic Testing: 15000811 | View details |
17 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-classical | 2909 | Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients:Erlandson, A., Samuelsson, L., Hagberg, B., Kyllerman, M., Vujic, M., Wahlström, J.:Genetic Testing: 15000811 | View details |
18 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-not certain | 3331 | 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 |
19 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-not certain | 3332 | 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 |
20 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-not certain | 3333 | 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 |
21 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-not certain | 3334 | 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 |
22 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-not certain | 3335 | 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 |
23 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-not certain | 3336 | 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 |
24 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-not certain | 3337 | 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 |
25 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-not certain | 3338 | 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 |
26 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-not certain | 3339 | 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.27-?_*?del | p.Arg9fs | Female | Rett syndrome-not certain | 3353 | Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082 | View details |
28 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-not certain | 3615 | 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 | View details |
29 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-not certain | 3616 | 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 | View details |
30 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-not certain | 3617 | 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 | View details |
31 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-classical | 3767 | 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 | View details |
32 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-classical | 3775 | Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients:Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ:J Med Genet: 16183801 | View details |
33 | c.27-?_*?del | p.Arg9fs | Female | Rett syndrome-classical | 3776 | Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients:Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ:J Med Genet: 16183801 | View details |