 |
 |
| > Home > Search > Mailing List > Info on HAE > Login |
Detailed info
| Owner: | admin | Position: | exon 3 | HAEUID: | 71 |
| Nucleotide change | Protein change | ||||
| Traditional: | 2467_2468insA | Traditional: | Frameshift | ||
| HUGO: | g.3649_3650insA | HUGO: | p.Gln108fs | ||
| CDS: | c.323_324insA | Effect: | pathogenic | ||
| Reference: | Bowen B et al (Clin Immunol. 2001 Feb;98(2):157-63.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
Add note (registered labs only)