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Detailed info
| Owner: | drouet_lab | Position: | exon 5 | HAEUID: | 205 |
| Nucleotide change | Protein change | ||||
| Traditional: | 8517_8520delTCTA | Traditional: | Frameshift stop 272 | ||
| HUGO: | g.9699_9702delTCTA | HUGO: | p.Ile271fs | ||
| CDS: | c.878-881delTCTA | Effect: | pathogenic | ||
| Reference: | Monnier et al. (Mol Immunol 2006 Jul;43(14):2161-8) | ||||
| Family history: | positive | No. of cases: | 2 | ||
| Notes: | de novo mutation | ||||
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