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Detailed info
| Owner: | tosi-lab | Position: | exon 8 | HAEUID: | 43 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16872C>T | Traditional: | Arg472Stop | ||
| HUGO: | g.18054C>T | HUGO: | p.Arg492Stop | ||
| CDS: | c.1480C>T | Effect: | pathogenic | ||
| Reference: | Verpy et al., 1995; 95:350-359 | ||||
| Family history: | positive | No. of cases: | 2 | ||
| Notes: | Method: Chemical cleavage of mismatch followed by sequencing. Not secreted. Also found as a likely de novo mutation Note of tordai-lab (2004-03-07): Also found in one Hungarian family (Kalmar L et al (Hum Mutat 2003 Dec;22(6):498);14635117) |
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