Variant information
Systematic Name (NM_004992.3:) |
c.867_1223delinsA |
---|---|
Protein name (NP_004983) |
p.Ser291Glnfs*26 |
Alternate systematic Name (NM_001110792.1:) |
c.903_1259delinsA |
Alternate Protein name (NP_001104262) |
p.(Ser303Glnfs*26) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296056_153296412delinsT |
Mutation type | frameshift combined insertion and deletion |
Domain | TRD, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.867_1223delinsA | p.Ser291Glnfs*26 | Female | Rett syndrome-classical | 4878 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | View details |