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Detailed info
| Owner: | admin | Position: | exon 8 | HAEUID: | 119 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16867T>A | Traditional: | Met470Lys | ||
| HUGO: | g.18049T>A | HUGO: | p.Met492Lys | ||
| CDS: | c.1475T>A | Effect: | pathogenic | ||
| Reference: | Bowen B et al (Clin Immunol. 2001 Feb;98(2):157-63.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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