Variant information
Systematic Name (NM_004992.3:) |
c.994_1346del353 |
---|---|
Protein name (NP_004983) |
p.Ser332fs |
Alternate systematic Name (NM_001110792.1:) |
c.1030_1382del353 |
Alternate Protein name (NP_001104262) |
p.(Ser344Valfs*37) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295933_153296285del353 |
Mutation type | Frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.994_1346del353 | p.Ser332fs | Female | Rett syndrome-Classical | 2335 | :Cardiff, UK:: | View details |