 |
 |
| > Home > Search > Mailing List > Info on HAE > Login |
Detailed info
| Owner: | tosi-lab | Position: | exon 5 | HAEUID: | 46 |
| Nucleotide change | Protein change | ||||
| Traditional: | 8517T>C | Traditional: | Ile271Thr | ||
| HUGO: | g.9899T>C | HUGO: | p.Ile293Thr | ||
| CDS: | c.878T>C | Effect: | pathogenic | ||
| Reference: | Pappalardo et al., J Allergy Clin Immunol 2000;106:1147-54 | ||||
| Family history: | sporadic (negative) | No. of cases: | 0 | ||
| Notes: | Method: FAMA followed by sequencing. De novo. | ||||
Add note (registered labs only)