Variant information
Systematic Name (NM_004992.3:) |
c.295_297delACC |
---|---|
Protein name (NP_004983) |
p.Thr99del |
Alternate systematic Name (NM_001110792.1:) |
c.331_333delACC |
Alternate Protein name (NP_001104262) |
p.(Thr111del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297738_153297740delGGT |
Mutation type | in-frame 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.295_297delACC | p.Thr99del | Female | Rett syndrome-classical | 4181 | ::: | View details |