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Detailed info
| Owner: | trascasa-lab | Position: | exon 8 | HAEUID: | 8 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16707delT | Traditional: | Ser417frameshift stop 427 | ||
| HUGO: | g.17889delT | HUGO: | p.Ser439fs | ||
| CDS: | c.1315delT | Effect: | pathogenic | ||
| Reference: | Blanch A et al (Hum Mutat 2002 Nov 20(5) 405-6) | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | Direct sequencing exon 8 | ||||
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