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Detailed info
| Owner: | tordai-lab | Position: | exon 4 | HAEUID: | 138 |
| Nucleotide change | Protein change | ||||
| Traditional: | 4467C>T | Traditional: | Gln201Stop | ||
| HUGO: | g.5649C>T | HUGO: | p.Gln223Stop | ||
| CDS: | c.667C>T | Effect: | pathogenic | ||
| Reference: | Kalmar L et al (Hum Mutat 2003 Dec;22(6):498) | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | ND | ||||
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