Variant information
Systematic Name (NM_004992.3:) |
c.-143_-138dup |
---|---|
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.18_23dup |
Alternate Protein name (NP_001104262) |
p.(Ala7_Ala8dup) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363100_153363105dup |
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.-143_-138dup | p.(=) | Female | Rett syndrome-Atypical | 2162 | :Cardiff, UK:: | View details |
2 | c.-143_-138dup | p.(=) | Female | Rett syndrome-atypical | 2758 | 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 | View details |
3 | c.-143_-138dup | p.(=) | Female | Rett syndrome-classical | 2912 | Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls:Evans, J.C., Archer, H.L., Whatley, S.D., Kerr, A., Clarke, A., Butler, R.:European Journal of Human Genetics: 15367913 | View details |
4 | c.-143_-138dup | p.(=) | Female | Not Rett synd. | 3987 | 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 | View details |
5 | c.-143_-138dup | p.(=) | Female | Not Known | 5113 | ::: | View details |
6 | c.-143_-138dup | p.(=) | Male | Not Rett synd. | 5114 | ::: | View details |