Variant information
Systematic Name (NM_004992.3:) |
c.378-?_*?del |
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Protein name (NP_004983) |
p.Asn126fs |
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 deletion |
Domain | MBD |
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.378-?_*?del | p.Asn126fs | Female | Rett syndrome-Not certain | 1864 | :Bunyan, D.:: | View details |
2 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-Not certain | 1917 | 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.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3325 | 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 |
4 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3326 | 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 |
5 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3327 | 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 |
6 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3328 | 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 |
7 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3329 | 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 |
8 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3330 | 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 |
9 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3351 | 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 |
10 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-not certain | 3352 | 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 |
11 | c.378-?_*?del | p.Asn126fs | Female | Rett syndrome-classical | 3781 | 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 |