Variant information


Systematic Name MECP2_e1: c.62+2_62+3delTG
Protein name intronic variation
Mutation type intronic variation
Domain intronic
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent exons 1-4
Number of chromosomes checked 498 chromosomes tested and not found in 498 chromosomes
Carrier status checked Yes
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome:Saunders, C.J., Minassian, B.E., Chow, E.W.C., Zhao, W., Vincent, J.B.:Am J Med Genet Part A: 19365833

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 3866 Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome:Saunders, C.J., Minassian, B.E., Chow, E.W.C., Zhao, W., Vincent, J.B.:Am J Med Genet Part A: 19365833
2 MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 2757 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
3 MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 2800 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