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Detailed info
| Owner: | admin | Position: | exon 7 | HAEUID: | 94 |
| Nucleotide change | Protein change | ||||
| Traditional: | 14082C>T | Traditional: | Gln339Stop | ||
| HUGO: | g.15264C>T | HUGO: | p.Gln361Stop | ||
| CDS: | c.1081C>T | Effect: | pathogenic | ||
| Reference: | Ono H et al (Hum Genet. 1996 Oct;98(4):452-3.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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