Variant information
Systematic Name (NM_004992.3:) |
c.654_657delGAAG |
---|---|
Protein name (NP_004983) |
p.Lys219fs |
Alternate systematic Name (NM_001110792.1:) |
c.690_693delGAAG |
Alternate Protein name (NP_001104262) |
p.(Lys231Serfs*28) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296622_153296625delCTTC |
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.654_657delGAAG | p.Lys219fs | Female | Rett syndrome-Classical | 2103 | :Cardiff, UK:: | View details |