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Detailed info
| Owner: | trascasa-lab | Position: | exon 8 | HAEUID: | 6 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16870G>A | Traditional: | Gly471Glu | ||
| HUGO: | g.18052G>A | HUGO: | p.Gly493Glu | ||
| CDS: | c.1478G>A | 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 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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