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Detailed info
| Owner: | MedGenetics-lab | Position: | exon 5 | HAEUID: | 308 |
| Nucleotide change | Protein change | ||||
| Traditional: | 1020T>C | Traditional: | p.Trp243Arg | ||
| HUGO: | g. | HUGO: | p.Trp265Arg | ||
| CDS: | c.793T>C | Effect: | pathogenic | ||
| Reference: | Ann Hum Genet. 2014 Mar;78(2):73-82. | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | DNA sequencing | ||||
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