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Detailed info
| Owner: | trascasa-lab | Position: | exon 7 | HAEUID: | 166 |
| Nucleotide change | Protein change | ||||
| Traditional: | 14137T>C | Traditional: | Phe357Ser | ||
| HUGO: | g.15319T>C | HUGO: | p.Phe379Ser | ||
| CDS: | c.1136T>C | Effect: | pathogenic | ||
| Reference: | Roche O. et (Human Mutation 2005 26(2), 135-144) | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | ND | ||||
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