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Detailed info
| Owner: | admin | Position: | exon 3 | HAEUID: | 70 |
| Nucleotide change | Protein change | ||||
| Traditional: | 2353C>G | Traditional: | Ser48Stop | ||
| HUGO: | g.3535C>G | HUGO: | p.Ser70Stop | ||
| CDS: | c.209C>G | Effect: | pathogenic | ||
| Reference: | Freiberger T et al (Hum Mutat. 2002 Apr;19(4):461.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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