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Detailed info
| Owner: | admin | Position: | exon 8 | HAEUID: | 104 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16789G>A | Traditional: | Arg444His | ||
| HUGO: | g.17971G>A | HUGO: | p.Arg466His | ||
| CDS: | c.1397G>A | Effect: | pathogenic | ||
| Reference: | Skriver K et al (J Biol Chem. 1989 Feb 25;264(6):3066-71.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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