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Detailed info
| Owner: | Wuerzburg | Position: | exon 8 | HAEUID: | 233 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16734G>C | Traditional: | Glu426Gln | ||
| HUGO: | g. | HUGO: | p.Glu448Gln | ||
| CDS: | c.1342G>C | Effect: | unknown | ||
| Reference: | Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8) | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | 4 members of 1 familiy, they have all another mutation Cys406Arg on the same allele | ||||
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