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 exonic deletions
Domain N-term
Pathogenicity Mutation associated with disease

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