Variant information
Systematic Name (NM_004992.3:) |
c.-114_-104dup11 |
---|---|
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.47_57dup11 |
Alternate Protein name (NP_001104262) |
p.(Arg20Alafs*28) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363066_153363076dup11 |
Mutation type | frameshift insertion or deletion |
Domain | exon 1 |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.-114_-104dup11 | p.(=) | Female | Rett syndrome-classical | 6624 | ::: | View details |