Variant information
Systematic Name (NM_004992.3:) |
c.506_507dupAG |
---|---|
Protein name (NP_004983) |
p.Gln170fs |
Alternate systematic Name (NM_001110792.1:) |
c.542_543dupAG |
Alternate Protein name (NP_001104262) |
p.(Gln182Serfs*41) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296772_153296773dupCT |
Mutation type | frameshift insertion or deletion |
Domain | Inter-domain |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.506_507dupAG | p.Gln170fs | Male | Not Rett synd. | 6638 | ::: | View details |