Proband information


Proband id 2800
Systematic Name
(NM_004992.3:)		 c.-99+2_-99+3delTG
Protein name
(NP_004983)		 intronic variant
Alternate systematic Name
(NM_001110792.1:)		 c.62+2_62+3delTG
Alternate Protein name
(NP_001104262)		 intronic variant
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363058_153363059delCA
Mutation type intronic variation
Domain intronic
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exon 1
Source of DNA blood
Carrier Y
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.-99+2_-99+3delTG intronic variant Female de novo 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 c.-99+2_-99+3delTG intronic variant 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 c.-99+2_-99+3delTG intronic variant Female de novo 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