Variant information
Systematic Name (NM_004992.3:) |
c.258_259delCA |
---|---|
Protein name (NP_004983) |
p.Ile87fs |
Alternate systematic Name (NM_001110792.1:) |
c.294_295delCA |
Alternate Protein name (NP_001104262) |
p.(Ile99Hisfs*3) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297776_153297777delTG |
Mutation type | Frameshift insertion or deletion |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.258_259delCA | p.Ile87fs | Female | Rett syndrome-Not certain | 123 | Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 | View details |