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Detailed info
| Owner: | admin | Position: | exon 8 | HAEUID: | 120 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16869G>A | Traditional: | Gly471Arg | ||
| HUGO: | g.18051G>A | HUGO: | p.Gly493Arg | ||
| CDS: | c.1477G>A | Effect: | pathogenic | ||
| Reference: | Sugiyama E et al (Arthritis Rheum. 2001 Apr;44(4):974-7.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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