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Detailed info
| Owner: | trascasa-lab | Position: | intron 5 | HAEUID: | 181 |
| Nucleotide change | Protein change | ||||
| Traditional: | 8530T>C | Traditional: | Asp207_Ser274del | ||
| HUGO: | g.9712T>C | HUGO: | p.Asp229_Ser296del | ||
| CDS: | c.889+2T>C | Effect: | pathogenic | ||
| Reference: | Roche O. et al (Human Mutation 2005 26(2), 135-144) | ||||
| Family history: | sporadic (negative) | No. of cases: | 0 | ||
| Notes: | Exon 5 skipping | ||||
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