 |
 |
| > Home > Search > Mailing List > Info on HAE > Login |
Detailed info
| Owner: | Rijavec-Golnik | Position: | exon 7 | HAEUID: | 318 |
| Nucleotide change | Protein change | ||||
| Traditional: | 14185_14186insTA | Traditional: | Frameshift | ||
| HUGO: | g.15367_15368insTA | HUGO: | p.Leu396fs | ||
| CDS: | c.1184_1185insTA | Effect: | pathogenic | ||
| Reference: | Andrejević et al. (PLoS One. 2015;10(11):e0142174) | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | ND | ||||
Add note (registered labs only)