 |
 |
| > Home > Search > Mailing List > Info on HAE > Login |
Detailed info
| Owner: | trascasa-lab | Position: | exon 4 | HAEUID: | 157 |
| Nucleotide change | Protein change | ||||
| Traditional: | 4378T>C | Traditional: | Leu171Pro | ||
| HUGO: | g.5560T>C | HUGO: | p.Leu193Pro | ||
| CDS: | c.578T>C | Effect: | pathogenic | ||
| Reference: | Roche O et al. (Human Mutation 2005 26 (2),135-144) | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | nothing | ||||
Add note (registered labs only)