Variant information


Systematic Name MECP2_e1: c.45_47dupAGG
Protein name MeCP2_e1: p.G16dup
Mutation type In-frame insertion or deletion
Domain N-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA Not known
Detection Not known
Extent Not known
Number of chromosomes checked
Carrier status checked Yes
Carrier result Unaffected mother has variation, unaffected maternal uncle has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Bradford Coffee::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Female Not Known 2004 :Bradford Coffee::
2 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2005 :Bradford Coffee::
3 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Male Not Rett synd. 2006 :Bradford Coffee::
4 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2557 Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659
5 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2558 Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659
6 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2559 Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659
7 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2560 Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659
8 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2561 Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659
9 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2562 Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659
10 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 3915 Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659
11 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 3916 Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659
12 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 3917 Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659
13 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 4822 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
14 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 6345 :::
15 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Rett syndrome-classical 6344 :::
16 MECP2_e1: c.45_47dupAGG in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 6845 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561