Variant information
Systematic Name (NM_004992.3:) |
c.-167_-99del |
---|---|
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.-7_62del |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363061_153363129del |
Mutation type | frameshift insertion or deletion |
Domain | N-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.-167_-99del | p.(=) | Female | Rett syndrome-Not certain | 1916 | 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.-167_-99del | p.(=) | Female | Rett syndrome-Atypical | 2074 | :Cardiff, UK:: | View details |
3 | c.-167_-99del | p.(=) | Female | Rett syndrome-classical | 2759 | Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352 | View details |
4 | c.-167_-99del | p.(=) | Female | Rett syndrome-not certain | 2929 | A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome:Mnatzakanian, G.N., Lohi, H., Munteanu, I., Alfred, S.E., Yamada, T., MacLeod, P.J.M., Jones, J.R., Scherer, S.W., Schanen, N.C., Friez, M.H., Vincent, J.B., Minassian, B.A.:Nature Genetics: 15034579 | View details |
5 | c.-167_-99del | p.(=) | Female | Rett syndrome-atypical | 3768 | 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 |
6 | c.-167_-99del | p.(=) | Female | Rett syndrome-atypical | 5136 | MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 | View details |