Variant information
Systematic Name (NM_004992.3:) |
c.756_763dup |
---|---|
Protein name (NP_004983) |
p.Arg255fs |
Alternate systematic Name (NM_001110792.1:) |
c.792_799dup |
Alternate Protein name (NP_001104262) |
p.(Arg267Profs*37) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296516_153296523dup |
Mutation type | frameshift insertion or deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.756_763dup | p.Arg255fs | Female | Rett syndrome-classical | 2888 | MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102 | View details |