Variant information
Systematic Name (NM_004992.3:) |
c.311_323del13 |
---|---|
Protein name (NP_004983) |
p.Trp104fs |
Alternate systematic Name (NM_001110792.1:) |
c.347_359del13 |
Alternate Protein name (NP_001104262) |
p.(Trp116Leufs*17) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297712_153297724del13 |
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.311_323del13 | p.Trp104fs | Female | Rett syndrome-Atypical | 2366 | :Cardiff, UK:: | View details |