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Detailed info
| Owner: | admin | Position: | exon 8 | HAEUID: | 106 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16791A>C | Traditional: | Thr445Pro | ||
| HUGO: | g.17973A>C | HUGO: | p.Thr467Pro | ||
| CDS: | c.1399A>C | Effect: | pathogenic | ||
| Reference: | Ocejo-Vinyals JG et al (Mol Med. 1995 Sep;1(6):700-5.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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