Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.-114_-104del11 p.(=) Female Rett syndrome-atypical 2801 Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome:Amir, R.E., Fang, P., Yu, Z., Glaze, D.G., Percy, A.K., Zoghbi, H.Y., Roa, B.B., Van den Veyver, I.B.:Journal of Medical Genetics: 15689438 View details
2 c.-114_-104del11 p.(=) Female Rett syndrome-classical 2803 Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome:Ravn, K., Nielsen, J.B., Schwartz, M.:Clinical Genetics: 15857422 View details
3 c.-114_-104del11 p.(=) Female Rett syndrome-atypical 2916 Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2:Saxena, A., de Lagarde, D., Leonard, H., Williamson, S.L., Vasudevan, V., Christodoulou, J., Thompson, E., MacLeod, P., Ravine, D.:J Med Genet: 16155192 View details
4 c.-114_-104del11 p.(=) Female Rett syndrome-not certain 2928 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.-114_-104del11 p.(=) Female Not Known 4445 :Das, S., Dempsey, M. U. Chicago:: View details
6 c.-114_-104del11 p.(=) Male Not Known 4446 :Das, S., Dempsey, M. U. Chicago:: View details
7 c.-114_-104del11 p.(=) Female Rett syndrome-classical 5121 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
8 c.-114_-104del11 p.(=) Female Not Rett synd. 6628 ::: View details