Variant information
Systematic Name (NM_004992.3:) |
c.1455_1456dupTA |
---|---|
Protein name (NP_004983) |
p.Ser486fs |
Alternate systematic Name (NM_001110792.1:) |
c.1491_1492dupTA |
Alternate Protein name (NP_001104262) |
p.(Ser498Ilefs*27) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295823_153295824dupTA |
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.1455_1456dupTA | p.Ser486fs | Female | Rett syndrome-classical | 3914 | :Khajuria, R.:: | View details |