 |
 |
| > Home > Search > Mailing List > Info on HAE > Login |
Detailed info
| Owner: | tordai-lab | Position: | intron 2 | HAEUID: | 143 |
| Nucleotide change | Protein change | ||||
| Traditional: | 638G>A | Traditional: | Splicing defect | ||
| HUGO: | g.1820G>A | HUGO: | p.- | ||
| CDS: | c.51+1G>A | Effect: | pathogenic | ||
| Reference: | Kalmar L et al (Hum Mutat 2003 Dec;22(6):498) | ||||
| Family history: | positive | No. of cases: | 2 | ||
| Notes: | ND | ||||
Add note (registered labs only)