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Detailed info
| Owner: | tosi-lab | Position: | exon 8 | HAEUID: | 44 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16884C>T | Traditional: | Pro476Ser | ||
| HUGO: | g.18066C>T | HUGO: | p.Pro498Ser | ||
| CDS: | c.1493C>T | Effect: | pathogenic | ||
| Reference: | Verpy et al,, J Clin Invest 1995; 95:350-359 | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | Method: Chemical cleavage of mismatch followed by sequencing. Reduced secretion, unable to bind C1s. | ||||
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