 |
 |
| > Home > Search > Mailing List > Info on HAE > Login |
Detailed info
| Owner: | admin | Position: | exon 8 | HAEUID: | 108 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16749_16750insTGT | Traditional: | other | ||
| HUGO: | g.17931_17932insTGT | HUGO: | p.Thr450_Glu451insCys | ||
| CDS: | c.1357_1358insTGT | Effect: | pathogenic | ||
| Reference: | Siddique Z et al (Hum Genet. 1993 Sep;92(2):189-90.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
Add note (registered labs only)