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Detailed info
| Owner: | admin | Position: | exon 5 | HAEUID: | 84 |
| Nucleotide change | Protein change | ||||
| Traditional: | 8448_8449insAACAC | Traditional: | Frameshift | ||
| HUGO: | g.9630_9631insAACAC | HUGO: | p.Thr270fs | ||
| CDS: | c.809_810insAACAC | Effect: | pathogenic | ||
| Reference: | Zuraw BL et al (J Allergy Clin Immunol. 2000 Mar;105(3):541-6.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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