Variant information


Systematic Name
(NM_004992.3:)		 c.-116_-114dupAGG
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.45_47dupAGG
Alternate Protein name
(NP_001104262)		 p.(Gly16dup)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363076_153363078dupCCT
Mutation type In-frame insertion or deletion
Domain N-term
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.-116_-114dupAGG p.(=) Female Not Known 2004 :Bradford Coffee:: View details
2 c.-116_-114dupAGG p.(=) Female Not Rett synd. 2005 :Bradford Coffee:: View details
3 c.-116_-114dupAGG p.(=) Male Not Rett synd. 2006 :Bradford Coffee:: View details
4 c.-116_-114dupAGG p.(=) 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 View details
5 c.-116_-114dupAGG p.(=) 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 View details
6 c.-116_-114dupAGG p.(=) 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 View details
7 c.-116_-114dupAGG p.(=) 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 View details
8 c.-116_-114dupAGG p.(=) 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 View details
9 c.-116_-114dupAGG p.(=) 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 View details
10 c.-116_-114dupAGG p.(=) 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 View details
11 c.-116_-114dupAGG p.(=) 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 View details
12 c.-116_-114dupAGG p.(=) 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 View details
13 c.-116_-114dupAGG p.(=) 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 View details
14 c.-116_-114dupAGG p.(=) Female Not Rett synd. 6345 ::: View details
15 c.-116_-114dupAGG p.(=) Female Rett syndrome-classical 6344 ::: View details
16 c.-116_-114dupAGG p.(=) 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 View details