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Detailed info
| Owner: | admin | Position: | exon 3 | HAEUID: | 152 |
| Nucleotide change | Protein change | ||||
| Traditional: | 2458_2461delCAAC | Traditional: | Frameshift | ||
| HUGO: | g.3640_3643del | HUGO: | p.Pro105fs | ||
| CDS: | c.314_317del | Effect: | pathogenic | ||
| Reference: | Cumming SA et al (J Med Genet. 2003 Oct;40(10):e114) | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | ND | ||||
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