Variant information
Systematic Name (NM_004992.3:) |
c.748_753del6insGGCCG |
---|---|
Protein name (NP_004983) |
p.Arg250fs |
Alternate systematic Name (NM_001110792.1:) |
c.784_789delinsGGCCG |
Alternate Protein name (NP_001104262) |
p.(Arg262Glyfs*39) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296526_153296531delinsCGGCC |
Mutation type | Frameshift combined insertion and deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.748_753del6insGGCCG | p.Arg250fs | Female | Rett syndrome-Not certain | 1872 | :Bunyan, D.:: | View details |