Proband information
Proband id | 2757 |
---|---|
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 | DHPLC |
Extent | exon 1 |
Source of DNA | blood |
Carrier | N |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | 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 |
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 |