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Detailed info
| Owner: | trascasa-lab | Position: | exon 5 | HAEUID: | 164 |
| Nucleotide change | Protein change | ||||
| Traditional: | 8502_03TC>AA | Traditional: | Val266Glu | ||
| HUGO: | g.9684_05TC>AA | HUGO: | p.Val288Glu | ||
| CDS: | c.863_64TC>AA | Effect: | pathogenic | ||
| Reference: | Roche O et al. (Human Mutation 2005 26(2), 135-144) | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | ND | ||||
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