Variant information
Systematic Name (NM_004992.3:) |
c.1052_1200del149 |
---|---|
Protein name (NP_004983) |
p.Pro351fs |
Alternate systematic Name (NM_001110792.1:) |
c.1088_1236del149 |
Alternate Protein name (NP_001104262) |
p.(Pro363Glnfs*4) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296079_153296227del149 |
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.1052_1200del149 | p.Pro351fs | Female | Rett syndrome-Atypical | 2179 | :Cardiff, UK:: | View details |