Variant information
Systematic Name (NM_004992.3:) |
c.1097_1203del107 |
---|---|
Protein name (NP_004983) |
p.His366fs |
Alternate systematic Name (NM_001110792.1:) |
c.1133_1239del107 |
Alternate Protein name (NP_001104262) |
p.(His378Profs*3) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296076_153296182del107 |
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.1097_1203del107 | p.His366fs | Female | Rett syndrome-Classical | 2098 | :Cardiff, UK:: | View details |