Variant information
Systematic Name (NM_004992.3:) |
c.736_743delinsGTG |
---|---|
Protein name (NP_004983) |
p.Met246fs |
Alternate systematic Name (NM_001110792.1:) |
c.772_779delinsGTG |
Alternate Protein name (NP_001104262) |
p.(Met258Valfs*11) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296536_153296543delinsCAC |
Mutation type | frameshift combined insertion and deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.736_743delinsGTG | p.Met246fs | Female | Not Known | 4479 | :Das, S., Dempsey, M. U. Chicago:: | View details |