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Detailed info
| Owner: | trascasa-lab | Position: | exon 8 | HAEUID: | 204 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16777T>G | Traditional: | Ile440Ser | ||
| HUGO: | g.17959T>G | HUGO: | p.Ile462Ser | ||
| CDS: | c.1385T>G | Effect: | pathogenic | ||
| Reference: | J Allergy Clin Immunol 2006, 118: 1330-1335 | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | This mutation is detected in homozygosis in two relatives (Phenotype HAE type I). One is without symptoms. There are 6 heterozygous relatives without clinical symptoms and with a phenotype type II |
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