Variant information
Systematic Name (NM_004992.3:) |
c.422dupA |
---|---|
Protein name (NP_004983) |
p.Tyr141* |
Alternate systematic Name (NM_001110792.1:) |
c.458dupA |
Alternate Protein name (NP_001104262) |
p.(Tyr153*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296857dupT |
Mutation type | Frameshift insertion or deletion |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.422dupA | p.Tyr141* | Female | Not Known | 1561 | :Carson, Nancy:: | View details |