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Detailed info
| Owner: | drouet_lab | Position: | intron 2 | HAEUID: | 206 |
| Nucleotide change | Protein change | ||||
| Traditional: | 640A>G | Traditional: | splicing defect | ||
| HUGO: | g.1822A>G | HUGO: | p. | ||
| CDS: | c.51+3A>G | Effect: | pathogenic | ||
| Reference: | Duponchel et al. (Human Mutat 2006 Mar;27(3):295-6) | ||||
| Family history: | positive | No. of cases: | 7 | ||
| Notes: | c.-21C polymorphism (exon 2) contributing to the severity of the disease | ||||
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